https://vimeo.com/158891251!.?.!The routine of our cherished Cub Studio Office Baby …
USE YOUR GOD DAMN DA That1ArtK1d happy boofday cuz
Made my dad a quick drawing for his birthday! He always calls me Chikorita, and I see him as a strong papa bear type so yee I just wish I could give him more this year, he really honestly deserves it
made this 4 my brother but all he said was “i think its fine”
Re- birth is painful. Outside forces pushing, From where you feel safe. Cast into the stream of the world. My Mother was not my home. I find my flow.
line art with ink and digital painting
https://vimeo.com/52942657!.?.!Iron Baby’s little bro … Images … docs.google.com/folder/d/0B7-20H6iLUf9QzdyZURXeHFIWHc/edit Songs drunkmums.bandcamp.com/.
Each month has a flower that symbolizes the month of somebody’s birth. The characteristics that the flower has may be “inherited” by whomever is born in that certain month person. Every month has a flower that is sometimes referred to as a Birth Month Flower.
Flowers by month is a term describing flowers related to a recipient’s birth month, and in general flowers associated with particular months of the year. It is one of a class of specialized categorizations offered by florists.
In a cultural sense, flower characteristics such as appearance, color, and scent, have relevance as gifts. It is believed that it was the Romans who started celebrating birth and birthdays using flowers. Seasonal flowers were used not just for decoration, but also taken as gifts and therefore can probably be credited with the tradition of birth flowers. Some have been inspired by this tradition to create lists that associate a birthday flower with each of the days in a year.
- 1 List of birth-flowers
- 1.1 English style
- 1.2 US style
- 1.3 Flowers By Month Explanation
- 2 See also
- 3 References
List of birth-flowers
Flowers By Month Explanation
Enumerated below are flowers of the month and their special meanings which are associated with specific months. It would be a helpful guide for gifting flowers for someone’s birthday. The language of flowers was introduced to England in the early 18th century by Mary Wortley, Lady Montague, whose husband was Ambassador to Turkey.
January: In the north of the northern hemisphere, January is a cold and gloomy month, but in non-frozen areas, many flowers will bloom in the cool weather, and carnation is one of them. The flower associated with the month is Carnation and is said to symbolise love, fascination and distinction. Carnation, which is also commonly called Gillyflower, is found in a number of colors from pink to red-purple.
February: This month is associated with St. Valentine’s Day and red roses. However, the flower for the month is Violet. The flower symbolises faithfulness, humility and chastity. Gifting violets in the Victorian era conveyed the message ‘I’ll always be true’. The flower is found in shades of blue, mauve as well as yellow and cream. One must remember that an older English name for the plant is “heartease.”
March: This month is synonymous with the onset of spring (in the Northern Hemisphere). Accordingly, the flower associated with this month is Daffodil also known as Jonquil or Narcissus. The colours of the bloom include white, yellow and orange. A gift of these flowers conveys the hidden meaning of friendship and happiness.
April: This month is associated with Sweet pea flower which bloom in a wide range of soft colors as well as two tone colors. It is said to symbolize pleasure or good-bye. In the Victorian era, these flowers formed a part of the bouquet which was sent to someone to convey gratefulness.
May: The month of May is associated with the Lily of the valley flower. It is generally white in colour. The flower conveys sweetness and humility. In the Victorian era, it was gifted to convey the romantic message ‘you have made my life complete’.
June: Rose is the flower of this month. Though roses are available in many colors from red to pink to white to yellow, all with their own special meanings, the underlying message the flowers convey is that of love and passion.
July: Larkspur is the flower for July. With its simple form, feelings of open heart and ardent attachment are attributed to it.
August: The flower for this month is the Gladiolus. It blooms in a variety of colours like red, pink, white, yellow and orange. It stands for sincerity and symbolises strength of character.
September: Aster or September flower is the flower for this month. It is found in a number of colours – pink, red, white, lilac and mauve. The name of the flower which looks like a star is derived from the Greek word for star. The flower symbolises love, faith, wisdom and colour.
October: Marigold or Calendula is the flower associated with October. For the Hindus, the month of October is associated with festivals like Dusshera and Diwali and Marigold, although a relatively recent introduced flower from the New World, has come to be an auspicious flower is part of religious ceremonies. However, in the English culture, marigold stands for sorrow and sympathy, perhaps derivative of its original symbolic association with death in the traditions of Mexico, as in the Day of the Dead, parallel to the Lily in Europe.
November: Chrysanthemum, which stands for cheerfulness and love, is associated with the month of November. According to Feng Shui, Chrysanthemums bring happiness and laughter in the house.
December: Poinsettia. These flowers are typically associated with Christmas. While considered by the ancient Aztecs to be symbols of purity, in today’s language of flowers, red, white or pink poinsettias, the December birth flower, symbolize good cheer and success and are said to bring wishes of mirth and celebration.
For other uses, see The Birth of Venus (disambiguation).
Sandro Botticelli, The Birth of Venus (c. 1484-86). Tempera on canvas. 172.5 cm × 278.9 cm (67.9 in × 109.6 in). Uffizi, Florence
Detail: the face of Venus
The Birth of Venus (Italian: Nascita di Venere [ˈnaʃʃita di ˈvɛːnere]) is a painting by the Italian artist Sandro Botticelli probably made in the mid 1480s. It depicts the goddess Venus arriving at the shore after her birth, when she had emerged from the sea fully-grown (called Venus Anadyomene and often depicted in art). The painting is in the Uffizi Gallery in Florence, Italy.
Although the two are not a pair, the painting is inevitably discussed with Botticelli’s other very large mythological painting, the Primavera, also in the Uffizi. They are among the most famous paintings in the world, and icons of the Italian Renaissance; of the two, the Birth is even better known than the Primavera. As depictions of subjects from classical mythology on a very large scale they were virtually unprecedented in Western art since classical antiquity, as was the size and prominence of a nude female figure in the Birth. It used to be thought that they were both commissioned by the same member of the Medici family, but this is now uncertain.
They have been endlessly analysed by art historians, with the main themes being: the emulation of ancient painters and the context of wedding celebrations (generally agreed), the influence of Renaissance Neo-Platonism (somewhat controversial), and the identity of the commissioners (not agreed). Most art historians agree, however, that the Birth does not require complex analysis to decode its meaning, in the way that the Primavera probably does. While there are subtleties in the painting, its main meaning is a straightforward, if individual, treatment of a traditional scene from Greek mythology, and its appeal is sensory and very accessible, hence its enormous popularity.
- 1 Description and subject
- 2 Technical
- 3 Style
- 4 Dating and history
- 5 Interpretations
- 5.1 Literary sources
- 5.2 Ancient art
- 5.3 Mack
- 6 Derivative versions
- 7 Notes
- 8 References
- 9 External links
Description and subject
The Hora of Spring
In the centre the newly-born goddess Venus stands nude in a giant scallop shell. Its size is purely imaginary, and is also found in classical depictions of the subject. At the left the wind god Zephyr blows at her, with the wind shown by lines radiating from his mouth. He is in the air, and carries a young female, who is also blowing, but less forcefully. Both have wings. Vasari was probably correct in identifying her as “Aura”, personification of a lighter breeze. Their joint efforts are blowing Venus towards the shore, and blowing the hair and clothes of the other figures to the right.
At the right a female figure who may be floating slightly above the ground holds out a rich cloak or dress to cover Venus when she reaches the shore, as she is about to do. She is one of the three Horae or Hours, Greek minor goddesses of the seasons and of other divisions of time, and attendants of Venus. The floral decoration of her dress suggests she is the Hora of Spring.
Alternative identifications for the two secondary female figures involve those also found in the Primavera; the nymph held by Zephyr may be Chloris, a flower nymph he married in some versions of her story, and the figure on land may be Flora. Flora is generally the Roman equivalent of the Greek Chloris; in the Primavera Chloris is transformed into the figure of Flora next to her, following Ovid’s Fasti, but it is hard to see that such a transformation is envisaged here. However, the roses blown along with the two flying figures would be appropriate for Chloris.
The subject is not strictly the “Birth of Venus”, a title only given the painting in the nineteenth century (though given as the subject by Vasari), but the next scene in her story, where she arrives on land, blown by the wind. The land probably represents either Cythera or Cyprus, both Mediterranean islands regarded by the Greeks as territories of Venus.
The painting is large, but slightly smaller than the Primavera, and where that is a panel painting, this is on the cheaper support of canvas. Canvas was increasing in popularity, perhaps especially for secular paintings for country villas, which were decorated more simply, cheaply and cheerfully than those for city palazzi, being designed for pleasure more than ostentatious entertainment.
The painting is on two pieces of canvas, sewn together before starting, with a gesso ground tinted blue. There are differences to Botticelli’s usual technique, working on panel supports, such as the lack of a green first layer under the flesh areas. There are a number of pentimenti revealed by modern scientific testing. The Hora originally had “low classical sandals”, and the collar on the mantle she holds out is an afterthought. The hair of Venus and the flying couple was changed. There is heavy use of gold as a pigment for highlights, on hair, wings, textiles, the shell and the landscape. This was all apparently applied after the painting was framed. It was finished with a “cool gray varnish”, probably using egg yolk.
As in the Primavera, the green pigment used for the wings of Zephyr and his companion and the leaves of the orange trees on the land has darkened considerably with exposure to light over time, somewhat distorting the intended balance of colours. Parts of some leaves at the top right corner, normally covered by the frame, have been less affected. The blues of the sea and sky have also lost their brightness.
Although the pose of Venus is classical in some respects, and borrows the position of the hands from the Venus Pudica type in Greco-Roman sculptures (see section below), the overall treatment of the figure, standing off-centre with a curved body of long flowing lines, is in many respects from Gothic art. Kenneth Clark wrote: “Her differences from antique form are not physiological, but rhythmic and structural. Her whole body follows the curve of a Gothic ivory. It is entirely without that quality so much prized in classical art, known as aplomb; that is to say, the weight of the body is not distributed evenly either side of a central plumb line. …. She is not standing but floating. … Her shoulders, for example, instead of forming a sort of architrave to her torso, as in the antique nude, run down into her arms in the same unbroken stream of movement as her floating hair.”
Venus’ body is anatomically improbable, with elongated neck and torso. Her pose is impossible: although she stands in a classical contrapposto stance, her weight is shifted too far over the left leg for the pose to be held. The proportions and poses of the winds to the left do not quite make sense, and none of the figures cast shadows. The painting depicts the world of the imagination rather than being very concerned with realistic depiction.
Ignoring the size and positioning of the wings and limbs of the flying pair on the left, which bother some other critics, Kenneth Clark calls them:
…perhaps the most beautiful example of ecstatic movement in the whole of painting. … the suspension of our reason is achieved by the intricate rhythms of the drapery which sweep and flow irresistibly around the nude figures. Their bodies, by an endless intricacy of embrace, sustain the current of movement, which finally flickers down their legs and is dispersed like an electric charge.
Botticelli’s art was never fully committed to naturalism; in comparison to his contemporary Domenico Ghirlandaio, Botticelli seldom gave weight and volume to his figures and rarely used a deep perspectival space. Botticelli never painted landscape backgrounds with great detail or realism, but this is especially the case here. The laurel trees and the grass below them are green with gold highlights, most of the waves regular patterns, and the landscape seems out of scale with the figures. The clumps of bulrushes in the left foreground are out of place here, as they come from a freshwater species.
Dating and history
It has long been suggested that Botticelli was commissioned to paint the work by the Medici family of Florence, perhaps by Lorenzo di Pierfrancesco de’ Medici (1463–1503) a major patron of Botticelli, under the influence of his cousin Lorenzo de’ Medici, “il Magnifico”. This was first suggested by Herbert Horne in his monograph of 1908, the first major modern work on Botticelli, and long followed by most writers, but more recently has been widely doubted, though it is still accepted by some. Various interpretations of the painting rely on this origin for its meaning. Although relations were perhaps always rather tense between the Magnifico and his young cousins and wards, Lorenzo di Pierfrancesco and his brother Giovanni di Pierfrancesco de’ Medici, it may have been politic to commission a work that glorified the older Lorenzo, as some interpretations have it. There may be a deliberate ambiguity as to which Lorenzo was intended to be evoked. In later years hostility between the two branches of the family became overt.
Horne believed that the painting was commissioned soon after the purchase in 1477 of the Villa di Castello, a country house outside Florence, by Lorenzo and Giovanni, to decorate their new house, which they were rebuilding. This was the year after their father died at the age of 46, leaving the young boys wards of their cousin Lorenzo il Magnifico, of the senior branch of the Medici family and de facto ruler of Florence. There is no record of the original commission, and the painting is first mentioned by Vasari, who saw it, together with the Primavera, at Castello, some time before the first edition of his Lives in 1550, probably by 1530–40. In 1550 Vasari was himself painting in the villa, but he very possibly visited it before that. But in 1975 it emerged that, unlike the Primavera, the Birth is not in the inventory, apparently complete, made in 1499 of the works of art belonging to Lorenzo di Pierfrancesco’s branch of the family. Ronald Lightbown concludes that it only came to be owned by the Medici after that. The inventory was only published in 1975, and made many previous assumptions invalid.
Horne dated the work at some point after the purchase of the villa in 1477 and before Botticelli’s departure for Rome to join the painting of the Sistine Chapel in 1481. Recent scholars prefer a date of around 1484–86 on grounds of the work’s place in the development of Botticelli’s style. The Primavera is now usually dated earlier, after Botticelli’s return from Rome in 1482 and perhaps around the time of Lorenzo di Pierfrancesco’s wedding in July 1482, but by some still before Botticelli’s departure.
Whenever the two paintings were united at Castello, they have remained together ever since. They stayed in Castello until 1815, when they were transferred to the Uffizi. For some years until 1919 they were kept in the Galleria dell’Accademia, another government museum in Florence.
Although there are ancient and modern texts that are relevant, no single text provides the precise imagery of the painting, which has led scholars to propose many sources and interpretations. Many art historians who specialize in the Italian Renaissance have found Neoplatonic interpretations, of which two different versions have been articulated by Edgar Wind and Ernst Gombrich, to be the key to understanding the painting. Botticelli represented the Neoplatonic idea of divine love in the form of a nude Venus.
For Plato – and so for the members of the Florentine Platonic Academy – Venus had two aspects: she was an earthly goddess who aroused humans to physical love or she was a heavenly goddess who inspired intellectual love in them. Plato further argued that contemplation of physical beauty allowed the mind to better understand spiritual beauty. So, looking at Venus, the most beautiful of goddesses, might at first raise a physical response in viewers which then lifted their minds towards the godly. A Neoplatonic reading of Botticelli’s Birth of Venus suggests that 15th-century viewers would have looked at the painting and felt their minds lifted to the realm of divine love.
The composition, with a central nude figure, and one to the side with an arm raised above the head of the first, and winged beings in attendance, would have reminded its Renaissance viewers of the traditional iconography of the Baptism of Christ, marking the start of his ministry on earth. In a similar way, the scene shows here marks the start of Venus’s ministry of love, whether in a simple sense, or the expanded meaning of Renaissance Neoplatonism.
More recently, questions have arisen about Neoplatonism as the dominant intellectual system of late 15th-century Florence, and scholars have indicated that there might be other ways to interpret Botticelli’s mythological paintings. In particular, both Primavera and Birth of Venus have been seen as wedding paintings that suggest appropriate behaviors for brides and grooms.
The laurel trees at right and laurel wreath worn by the Hora are punning references to the name “Lorenzo”, though it is uncertain whether Lorenzo il Magnifico, the effective ruler of Florence, or his young cousin Lorenzo di Pierfrancesco is meant. In the same way the flowers in the air around Zephyr and on the textiles worn and carried by the Hora evoke the name of Florence.
Roman fresco from the “House of Venus” in Pompeii, 1st century BC
The closest precedent for the scene is generally agreed to be in one of the early ancient Greek Homeric Hymns, published in Florence in 1488 by the Greek refugee Demetrios Chalkokondyles:
Of august gold-wreathed and beautiful
Aphrodite I shall sing to whose domain
belong the battlements of all sea-loved
Cyprus where, blown by the moist breath
of Zephyros, she was carried over the
waves of the resounding sea on soft foam.
The gold-filleted Horae happily welcomed
her and clothed her with heavenly raiment.
This poem was probably already known to Botticelli’s Florentine contemporary, and Lorenzo di Medici’s court poet, Angelo Poliziano. The iconography of The Birth of Venus is similar to a description of a relief of the event in Poliziano’s poem the Stanze per la giostra, commemorating a Medici joust in 1475, which may also have influenced Botticelli, although there are many differences. For example Poliziano talks of multiple Horae and zephyrs. Older writers, following Horne, posited that “his patron Lorenzo di Pierfrancesco asked him to paint a subject illustrating the lines”, and that remains a possibility, though one difficult to maintain so confidently today. Another poem by Politian speaks of Zephyr causing flowers to bloom, and spreading their scent over the land, which probably explains the roses he blows along with him in the painting.
Capitoline Venus, derived from Aphrodite of Cnidus
Venus de’ Medici
Having a large standing female nude as the central focus was unprecedented in post-classical Western painting, and certainly drew on the classical sculptures which were coming to light in this period, especially in Rome, where Botticelli had spent 1481–82 working on the walls of the Sistine Chapel. The pose of Botticelli’s Venus follows the Venus Pudica (“Venus of Modesty”) type from classical antiquity, where the hands are held to cover the breasts and groin; in classical art this is not associated with the new-born Venus Anadyomene. What became a famous example of this type is the Venus de’ Medici, a marble sculpture that was in a Medici collection in Rome by 1559, which Botticelli may have had opportunity to study (the date it was found is unclear).
The painter and the humanist scholars who probably advised him would have recalled that Pliny the Elder had mentioned a lost masterpiece of the celebrated ancient Greek painter, Apelles, representing Venus Anadyomene (Venus Rising from the Sea). According to Pliny, Alexander the Great offered his mistress, Pankaspe, as the model for the nude Venus and later, realizing that Apelles had fallen in love with the girl, gave her to the artist in a gesture of extreme magnanimity. Pliny went on to note that Apelles’ painting of Pankaspe as Venus was later “dedicated by Augustus in the shrine of his father Caesar.” Pliny also stated that “the lower part of the painting was damaged, and it was impossible to find anyone who could restore it. . . . This picture decayed from age and rottenness, and Nero… substituted for it another painting by the hand of Dorotheus”.
Pliny also noted a second painting by Apelles of Venus “superior even to his earlier one,” that had been begun by artist but left unfinished. The Roman images in various media showing the new-born Venus in a giant shell may well be crude derivative versions of these paintings. Botticelli could not have seen the frescos unearthed later in Pompeii, but may well have seen small versions of the motif in terracotta or engraved gems. The “House of Venus” in Pompeii has a life-size fresco of Venus lying in the shell, also seen in other works; in most other images she stands with her hands on her hair, wringing the water from it, with or without a shell.
The two-dimensionality of this painting may be a deliberate attempt to evoke the style of ancient Greek vase painting or frescos on the walls of Etruscan tombs, the only types of ancient painting known to Botticelli.
Greco-Roman Venus Anadyomene
Greco-Roman bronze statuette
Roman glass cameo Venus Anadyomene
Greek terracotta, from Pontus
Zephyr and his companion
Another interpretation of the Birth of Venus is provided here by its author, Charles R. Mack. This interpretation takes much that is generally agreed, but Mack goes on to explain the painting as an allegory extolling the virtues of Lorenzo de’ Medici. This has not been adopted by Renaissance art historians in general, and it remains problematic, since it depends on the painting being commissioned by the Medici, yet the work is not documented in Medici hands until well into the following century.
Mack sees the scene as inspired by both the Homeric Hymn and the ancient paintings. But something more than a rediscovered Homeric hymn was likely in the mind of the Medici family member who commissioned this painting from Botticelli. Once again, Botticelli, in his version of the Birth of Venus, might be seen as completing the task begun by his ancient predecessor Apelles, even surpassing him. Giving added support to this interpretation of Botticelli as a born-again Apelles is the fact that that very claim was voiced in 1488 by Ugolino Verino in a poem entitled “On Giving Praise to the History of Florence.”
While Botticelli might well have been celebrated as a revivified Apelles, his Birth of Venus also testified to the special nature of Florence’s chief citizen, Lorenzo de’ Medici. Although it now seems that the painting was executed for another member of the Medici family, it likely was intended to celebrate and flatter its head, Lorenzo de’ Medici. Tradition associates the image of Venus in Botticelli’s painting with the famous beauty Simonetta Cattaneo Vespucci, of whom popular legend claims both Lorenzo and his younger brother, Giuliano, were great admirers. Simonetta was possibly born in the Ligurian seaside town of Portovenere (‘the port of Venus’). Thus, in Botticelli’s interpretation, Pankaspe (the ancient living prototype of Simonetta), the mistress of Alexander the Great (the Laurentian predecessor), becomes the lovely model for the lost Venus executed by the famous Greek painter Apelles (reborn through the recreative talents of Botticelli), which ended up in Rome, installed by Emperor Augustus in the temple dedicated to Florence’s supposed founder Julius Caesar.
In the case of Botticelli’s Birth of Venus, the suggested references to Lorenzo, supported by other internal indicators such as the stand of laurel bushes at the right, would have been just the sort of thing erudite Florentine humanists would have appreciated. Accordingly, by overt implication, Lorenzo becomes the new Alexander the Great with an implied link to both Augustus, the first Roman emperor, and even to Florence’s legendary founder, Caesar himself. Lorenzo, furthermore, is not only magnificent but, as was Alexander in Pliny’s story, also magnanimous, as well. Ultimately, these readings of the Birth of Venus flatter not only the Medici and Botticelli but all of Florence, home to the worthy successors to some of the greatest figures of antiquity, both in governance and in the arts.
These essentially pagan readings of Botticelli’s Birth of Venus should not exclude a more purely Christian one, which may be derived from the Neoplatonic reading of the painting indicated above. Viewed from a religious standpoint, the nudity of Venus suggests that of Eve before the Fall as well as the pure love of Paradise. Once landed, the goddess of love will don the earthly garb of mortal sin, an act that will lead to the New Eve – the Madonna whose purity is represented by the nude Venus. Once draped in earthly garments she becomes a personification of the Christian Church which offers a spiritual transport back to the pure love of eternal salvation. In this case the scallop shell upon which this image of Venus/Eve/Madonna/Church stands may be seen in its traditionally symbolic pilgrimage context. Furthermore, the broad expanse of sea serves as a reminder of the Virgin Mary’s title stella maris, alluding both to the Madonna’s name (Maria/maris) and to the heavenly body (Venus/stella). The sea brings forth Venus just as the Virgin gives birth to the ultimate symbol of love, Christ.
Calumny of Apelles, 1494–95, with “Truth” at left. Uffizi, Florence.
Rather than choosing one of the many interpretations offered for Botticelli’s depiction of the Birth (Arrival?) of Venus it might be better to view it from a variety of perspectives. This layered approach—mythological, political, religious—was intended.
Berlin Venus, workshop of Botticelli. Gemäldegalerie, Berlin.
Botticelli, or more likely his workshop, repeated the figure of Venus in another painting of about 1490. This life-sized work depicts a similar figure and pose, partially clad in a light blouse, and contrasted against a plain dark background. It is in the Galleria Sabauda in Turin. There is another such workshop Venus in Berlin, and very likely others were destroyed in the “Bonfire of the Vanities”. Examples seem to have been exported to France and Germany, probably influencing Lucas Cranach the Elder among others.
More than a decade later, Botticelli adapted the figure of Venus for a nude personification of “Truth” in his Calumny of Apelles. Here one hand is raised, pointing to heaven for justification, and the figure’s gaze also looks upwards; the whole effect is very different.
- Clark, Kenneth, The Nude, A Study in Ideal Form, orig. 1949, various edns, page refs from Pelican edn of 1960
- Dempsey, Charles, “Botticelli, Sandro”, Grove Art Online, Oxford Art Online. Oxford University Press. Web. 15 May. 2017. subscription required.
- “Ettlingers”: Leopold Ettlinger with Helen S. Ettlinger, Botticelli, 1976, Thames and Hudson (World of Art), ISBN 0500201536
- Hartt, Frederick, History of Italian Renaissance Art, (2nd edn.)1987, Thames & Hudson (US Harry N Abrams), ISBN 0500235104
- Hemsoll, David, The Birth of Venus, University of Birmingham, 18 min introductory lecture, refs to mm:ss
- Legouix, Susan, Botticelli, 115–118, 2004 (revd edn), Chaucer Press, ISBN 1904449212
- Lightbown, Ronald, Sandro Botticelli: Life and Work, 1989, Thames and Hudson
- Mack, Charles R. (2002),”Botticelli’s Venus: Antique Allusions and Medicean Propaganda,” Explorations in Renaissance Culture, 28, 1 (Winter), 2002, 1–31.
- Mack, Charles R. (2005), Looking at the Renaissance: Essays toward a Contextual Appreciation, Ann Arbor: University of Michigan Press, 2005
- Wind, Edgar, Pagan Mysteries in the Renaissance, 1967 edn., Peregrine Books
- University of Birmingham: Dr David Hemsoll, The Birth of Venus – mini-lecture
- ArtSleuth: The Birth of Venus – That Obscure Object of Desire
This article is about congenital disorders in humans. For animals, see Teratology.
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which there are problems with the shape of a body part and functional disorders in which there are problems with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders.
Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visible at birth or diagnosed by screening tests. A number of defects can be detected before birth by different prenatal tests.
Treatment varies depending on the defect in question. This may include therapy, medication, surgery, or assistive technology. Birth defects affected about 96 million people as of 2015. In the United States they occur in about 3% of newborns. They resulted in about 628,000 deaths in 2015 down from 751,000 in 1990. The types with the greatest numbers of deaths are congenital heart disease (303,000), followed by neural tube defects (65,000).
- 1 Classification
- 1.1 Primarily structural
- 1.1.1 Terminology
- 1.1.2 Examples of primarily structural congenital disorders
- 1.2 Primarily metabolic
- 1.3 Other
- 1.1 Primarily structural
- 2 Causes
- 2.1 Fetal alcohol exposure
- 2.2 Toxic substances
- 2.2.1 Medications and supplements
- 2.2.2 Toxic substances
- 2.3 Smoking
- 2.4 Infections
- 2.5 Lack of nutrients
- 2.6 Physical restraint
- 2.7 Genetic causes
- 2.8 Socioeconomic status
- 2.9 Radiation
- 2.10 Parent’s age
- 2.11 Unknown
- 3 Screening
- 4 Epidemiology
- 4.1 United States
- 5 See also
- 6 References
- 7 External links
Much of the language used for describing congenital conditions predates genome mapping, and structural conditions are often considered separately from other congenital conditions. It is now known that many metabolic conditions may have subtle structural expression, and structural conditions often have genetic links. Still, congenital conditions are often classified in a structural basis, organized when possible by primary organ system affected.
Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)
- A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.
- Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. According to the CDC, most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors, though many birth defects have no known cause. An example of a birth defect is cleft palate, which occurs during the fourth and seventh week of gestation. Body tissue and special cells from each side of the head grow toward the center of the face. They join together to make the face. A cleft means a split or separation; the “roof” of the mouth is called the palate.
- A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.
- Some conditions are due to abnormal tissue development:
- A malformation is associated with a disorder of tissue development. Malformations often occur in the first trimester.
- A dysplasia is a disorder at the organ level that is due to problems with tissue development.
- It is also possible for conditions to arise after tissue is formed:
- A deformation is a condition arising from mechanical stress to normal tissue. Deformations often occur in the second or third trimester, and can be due to oligohydramnios.
- A disruption involves breakdown of normal tissues.
- When multiple effects occur in a specified order, it is known as a sequence. When the order is not known, it is a syndrome.
Examples of primarily structural congenital disorders
A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.
Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot.
Congenital anomalies of the nervous system include neural tube defects such as spina bifida, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.
Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis.
Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.
Defects can be bilateral or unilateral, and different defects often coexist in an individual child.
Main article: Inborn error of metabolism
A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.
Other well defined genetic conditions may affect the production of hormones, receptors, structural proteins, and ion channels.
Fetal alcohol exposure
Main articles: Fetal alcohol spectrum disorder and Fetal alcohol syndrome
The mother’s consumption of alcohol during pregnancy can cause a continuum of various permanent birth defects : cranofacial abnormalities, brain damage, intellectual disability, heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities.
The prevalence of children affected is estimated at least 1 percent in U.S. as well in Canada.
Very few studies have investigated the links between paternal alcohol use and offspring health.
However, recent animal research has shown a correlation between paternal alcohol exposure and decreased offspring birth weight. Behavioral and cognitive disorders, including difficulties with learning and memory, hyperactivity, and lowered stress tolerance have been linked to paternal alcohol ingestion. The compromised stress management skills of animals whose male parent was exposed to alcohol are similar to the exaggerated responses to stress that children with fetal alcohol syndrome display because of maternal alcohol use. These birth defects and behavioral disorders were found in cases of both long- and short-term paternal alcohol ingestion. In the same animal study, paternal alcohol exposure was correlated with a significant difference in organ size and the increased risk of the offspring displaying ventricular septal defects at birth.
Further information: Developmental toxicity, Drugs in pregnancy, and Environmental toxins and fetal development
Substances whose toxicity can cause congenital disorders are called teratogens, and include certain pharmaceutical and recreational drugs in pregnancy as well as many environmental toxins in pregnancy.
A review published in 2010 identified 6 main teratogenic mechanisms associated with medication use: folate antagonism, neural crest cell disruption, endocrine disruption, oxidative stress, vascular disruption and specific receptor- or enzyme-mediated teratogenesis.
It is estimated that 10% of all birth defects are caused by prenatal exposure to a teratogenic agent. These exposures include, but are not limited to, medication or drug exposures, maternal infections and diseases, and environmental and occupational exposures. Paternal smoking use has also been linked to an increased risk of birth defects and childhood cancer for the offspring, where the paternal germline undergoes oxidative damage due to cigarette use. Teratogen-caused birth defects are potentially preventable. Studies have shown that nearly 50% of pregnant women have been exposed to at least one medication during gestation. During pregnancy, a female can also be exposed to teratogens from the contaminated clothing or toxins within the seminal fluid of a partner. An additional study found that of 200 individuals referred for genetic counseling for a teratogenic exposure, 52% were exposed to more than one potential teratogen.
Medications and supplements
Probably, the most well-known teratogenic drug is thalidomide. It was developed near the end of the 1950s by Chemie Grűnenthal as a sleep inducing aid and antiemetic. Because of its ability to prevent nausea it was prescribed for pregnant women in almost 50 countries worldwide between 1956–1962. Until William McBride published the study leading to its withdrawal from the market at 1961, about 8- 10 000 severely malformed children were born. The most typical disorder induced by thalidomide were reductional deformities of the long bones of the extremities. Phocomelia otherwise a rare deformity, which therefore helped to recognise the teratogenic effect of the new drug. Among other malformations caused by thalidomide were those of ears, eyes, brain, kidney, heart, digestive and respiratory tract. 40% of the prenatally affected children died soon after birth. As thalidomide is used today as a treatment for multiple myeloma and leprosy, several births of affected children were described in spite of the strictly required use of contraception among female patients treated by it.
Vitamin A, is the sole vitamin which is embryotoxic even in a therapeutic dose, for example in multivitamins, because its metabolite retinoic acid, plays an important role as a signal molecule in the development of several tisues and organs. Its natural precursor, β-carotene, is considered safe, whereas the consumption of animal liver can lead to malformation, as the liver stores lipophile vitamins, including retinol. Isotretinoin (13-cis-retinoic-acid; brand name Roaccutane), vitamine A analog, which is often used to treat severe acne, is such a strong teratogen that just a single dose taken by a pregnant woman (even transdermally) may result in serious birth defects. Because of this effect, most countries have systems in place to ensure that it is not given to pregnant women, and that the patient is aware of how important it is to prevent pregnancy during and at least one month after treatment. Medical guidelines also suggest that pregnant women should limit vitamin A intake to about 700 μg/day, as it has teratogenic potential when consumed in excess. Vitamine A and similar substances can induce spontaneous abortions, premature births, defects of eyes (microphthalmia), ears, thymus, face deformities, neurological (hydrocephalus, microcephalia) and cardiovascular defects, as well as mental retardation.
Tetracycline, an antibiotic, should never be prescribed to women of reproductive age or to children, because of its negative impact on bone mineralization and teeth mineralization. The “tetracycline teeth” have brown or grey colour as a result of a defective development of both the dentine and the enamel of teeth.
Several anticonvulsants are known to be highly teratogenic. Phenytoin, also known as diphenylhydantoin, along with carbamazepine is responsible for the fetal hydantoin syndrome, which may typically include broad nose base, cleft lip and/or palate, microcephalia, nails and fingers hypoplasia, intrauterine growth restriction and mental retardation. Trimethadione taken during pregnancy is responsible for the fetal trimethadione syndrome, characterized by craniofacial, cardiovascular, renal and spine malformations, along with a delay in mental and physical development. Valproate has antifolate effects, leading to neural tube closure-related defects such as spina bifida. Lower IQ and autism have recently also been reported as a result of intrauterine valproate exposure.
Hormonal contraception is considered as harmless for the embryo. Peterka and Novotná do however state that syntethic progestines used to prevent miscarriage in the past frequently caused masculinization of the outer reproductive organs of female newborns due to their androgenic activity. Diethylstilbestrol is a synthetic estrogen used from the 1940s to 1971 when the prenatal exposition has been linked to the clear-cell adenocarcinoma of the vagina. Following studies showed elevated risks for other tumors and congenital malformations of the sex organs for both sexes.
All cytostatics are strong teratogens, abortion is usually recommended when pregnancy is discovered during or before chemotherapy. Aminopterin, a cytostatic drug with anti-folate effect, was used during the 1950s and 1960s to induce therapeutic abortions. In some cases the abortion didn´t happen, but the newborns suffered a fetal aminopterin syndrome consisting of growth retardation, craniosynostosis, hydrocephalus, facial dismorphities, mental retardation and/or leg defomities
Drinking water is often a medium through which harmful toxins travel. Studies have shown that heavy metals, elements, nitrates, nitrites, fluoride can be carried through water and cause congenital disorders.
Nitrate, which is found mostly in drinking water from ground sources, is a powerful teratogen. A case-control study in rural Australia that was conducted following frequent reports of prenatal mortality and congenital malformations found that those who drank the nitrate-infected groundwater, as opposed to rain water, ran the risk of giving birth to children with central nervous system disorders, muscoskeletal defects, and cardiac defects.
Chlorinated and aromatic solvents such as benzene and trichloroethylene sometimes enter the water supply due to oversights in waste disposal. A case-control study on the area found that by 1986, leukemia was occurring in the children of Woburn, Massachusetts at a rate that was four times the expected rate of incidence. Further investigation revealed a connection between the high occurrence of leukemia and an error in water distribution that delivered water to the town with significant contamination manufacturing waste containing trichloroethylene. As an endocrine disruptor, the DDT was shown to induce miscarriages, interfere with the development of the female reproductive system, cause the congenital hypothyroidism and suspectibly childhood obesity.
Fluoride, when transmitted through water at high levels, can also act as a teratogen. Two reports on fluoride exposure from China, which were controlled to account for the education level of parents, found that children born to parents who were exposed to 4.12 PPM fluoride grew to have IQs that were, on average, seven points lower than their counterparts whose parents consumed water that contained 0.91 PPM fluoride. In studies conducted on rats, higher PPM fluoride in drinking water lead to increased acetylcholinesterase levels, which can alter prenatal brain development. The most significant effects were noted at a level of 5 PPM.
The fetus is even more susceptible to damage from carbon monoxide intake, which can be harmful when inhaled during pregnancy, usually through first or second-hand tobacco smoke. The concentration of carbon monoxide in the infant born to a non-smoking mother is around 2%, and this concentration drastically increases to a range of 6%–9% if the mother smokes tobacco. Other possible sources of prenatal carbon monoxide intoxication are exhaust gas from combustion motors, use of dichloromethane (paint thinner, varnish removers) in enclosed areas, defective gas hot water heaters, indoor barbeques, open flames in poorly-ventilated areas, atmospheric exposure in highly polluted areas. Exposure to carbon monoxide at toxic levels during the first two trimesters of pregnancy can lead to intrauterine growth restriction, leading to a baby that has stunted growth and is born smaller than 90% of other babies at the same gestational age. The effect of chronic exposure to carbon monoxide can depend on the stage of pregnancy in which the mother is exposed. Exposure during the embryonic stage can have neurological consequences, such as telencephalic dysgenesis, behavioral difficulties during infancy, and reduction of cerebellum volume. There are also possible skeletal defects that could result from exposure to carbon monoxide during the embryonic stage, such as hand and foot malformations, hip dysplasia, hip subluxation, agenisis of a limb, and inferior maxillary atresia with glossoptosis. Also, carbon monoxide exposure between days 35 and 40 of embryonic development can lead to an increased risk of the child developing a cleft palate. Exposure to carbon monoxide or polluted ozone exposure can also lead to cardiac defects of the ventrical septal, pulmonary artery and heart valves. The effects of carbon monoxide exposure are decreased later in fetal development during the fetal stage, but they may still lead to anoxic encephalopathy.
Industrial pollution can also lead to congenital defects. Over a period of 37 years, the Chisso Corporation, a petrochemical and plastics company, contaminated the waters of Minamata Bay with an estimated 27 tons of methylmercury, contaminating the local water supply. This led to many people in the area developing what became known as the “Minamata Disease.” Because methylmercury is a teratogen, the mercury poisoning of those residing by the bay resulted in neurological defects in the offspring. Infants exposed to mercury poisoning in utero showed predispositions to cerebral palsy, ataxia, inhibited psychomotor development, and mental retardation.
Landfill sites have been shown to have adverse effects on fetal development. Extensive research has been shown that landfills have several negative effects on babies born to mothers living near landfill sites: low birth weight, birth defects, spontaneous abortion, and fetal and infant mortality. Studies done around the Love Canal site near Niagara Falls and the Lipari Landfill in New Jersey have shown a higher proportion of low birth babies than communities farther away from landfills. A study done in California showed a positive correlation between time and quantity of dumping and low birth weights and neonatal deaths. A study in the United Kingdom showed a correspondence between pregnant women living near landfill sites and an increased risk of congenital disorders, such as neural tube defects, hypospadias, epispadia, and abdominal wall defects, such as gastroschisis and exomphalos. A study conducted on a Welsh community also showed an increase incidence of gastroschisis. Another study was done on twenty-one European hazardous waste sites and showed that those living within three kilometers had an increased risk of giving birth to infants with birth defects and that as distance from the land increased, the risk decreased. These birth defects included neural tube defects, malformations of the cardiac septa, anomalies of arteries and veins, and chromosomal anomalies. Looking at communities that live near landfill sites brings up environmental justice. A vast majority of sites are located near poor, mostly black, communities. For example, between the early 1920s and 1978, about 25% of Houston’s population was black. However, over 80% of landfills and incinerators during this time were located in these black communities.
Another issue regarding environmental justice is lead poisoning. If the fetus is exposed to lead during the pregnancy, this can result in learning difficulties and slowed growth. A lot of paints (before 1978) and pipes contain lead. Therefore, pregnant women who live in homes with lead paint will inhale the dust containing lead, leading to lead exposure in the fetus. When lead pipes are used for drinking water and cooking water, this water is ingested, along with the lead, exposing the fetus to this toxin. This issue is more prevalent in poorer communities. This is because more well off families are able to afford to have their homes repainted and pipes renovated.
Paternal smoking prior to conception has been linked with the increased risk of congenital abnormalities in offspring.
Smoking causes DNA mutations in the germline of the father, which can be inherited by the offspring. Cigarette smoke acts as a chemical mutagen on germ cell DNA. The germ cells suffer oxidative damage, and the effects can be seen in altered mRNA production, infertility issues, and side effects in the embryonic and fetal stages of development. This oxidative damage may result in epigenetic or genetic modifications of the father’s germline. Research has shown that fetal lymphocytes have been damaged as a result of a father’s smoking habits prior to conception.
Correlations between paternal smoking and the increased risk of offspring developing childhood cancers (including acute leukemia, brain tumors, and lymphoma) before age five have been established. However, further research is needed to confirm these findings. Little is currently known about how paternal smoking damages the fetus, and what window of time in which the father smokes is most harmful to offspring.
Main article: Vertically transmitted infection
A vertically transmitted infection is an infection caused by bacteria, viruses or, in rare cases, parasites transmitted directly from the mother to an embryo, fetus or baby during pregnancy or childbirth. It can occur when the mother gets an infection as an intercurrent disease in pregnancy.
Congenital disorders were initially believed to be the result of only hereditary factors. However, in the early 1940s, Australian pediatric ophthalmologist Norman Gregg began recognizing a pattern in which the infants arriving at his surgery were developing congenital cataracts at a higher rate than those who developed it from hereditary factors. On October 15, 1941, Gregg delivered a paper which explained his findings-68 out of the 78 children who were afflicted with congenital cataracts had been exposed in utero to rubella due to an outbreak in Australian army camps. These findings confirmed, to Gregg, that there could, in fact, be environmental causes for congenital disorders.
Rubella is known to cause abnormalities of the eye, internal ear, heart, and sometimes the teeth. More specifically, fetal exposure to rubella during weeks five to ten of development (the sixth week particularly) can cause cataracts and microphthalmia in the eyes. If the mother is infected with rubella during the ninth week, a crucial week for internal ear development, there can be destruction of the organ of Corti, causing deafness. In the heart the ductus arteriosus can remain after birth, leading to hypertension. Rubella can also lead to atrial and ventricular septal defects in the heart. If exposed to rubella in the second trimester, the fetus can develop central nervous system malformations. However, because infections of rubella may remain undetected, misdiagnosed, or unrecognized in the mother, and/or some abnormalities are not evident until later in the child’s life, precise incidence of birth defects due to rubella are not entirely known. The timing of the mother’s infection during fetal development determines the risk and type of birth defect. As the embryo develops, the risk of abnormalities decreases. If exposed to the rubella virus during the first four weeks, the risk of malformations is 47 percent. Exposure during weeks five through eight creates a 22 percent chance, while weeks nine to twelve a seven percent chance exists, followed by a percentage of six if the exposure is during the thirteenth to sixteenth weeks. Exposure during the first eight weeks of development can also lead to prematurity and fetal death. These numbers are calculated from immediate inspection of the infant after birth. Therefore, mental defects are not accounted for in the percentages because they are not evident until later in the child’s life. If they were to be included, these numbers would be much higher.
Other infectious agents include cytomegalovirus, the herpes simplex virus, hyperthermia, toxoplasmosis, and syphilis. Mother exposure to cytomegalovirus can cause microcephaly, cerebral calcifications, blindness, chorioretinitis (which can cause blindness), hepatosplenomegaly, and meningoencephalitis in fetuses. Microcephaly is a disorder in which the fetus has an atypically small head, cerebral calcifications means certain areas of the brain have atypical calcium deposits, and meningoencephalitis is the enlargement of the brain. All three disorders cause abnormal brain function or mental retardation. Hepatosplenomegaly is the enlargement of the liver and spleen which causes digestive problems. It can also cause some kernicterus and petechiae. Kernicterus causes yellow pigmentation of the skin, brain damage, and deafness. Petechaie is when the capillaries bleed resulting in red/purple spots on the skin. However, cytomegalovirus is often fatal in the embryo.
The herpes simplex virus can cause microcephaly, microphthalmus (abnormally small eyeballs), retinal dysplasia, hepatosplenomegaly, and mental retardation. Both microphthalmus and retinal dysplasia can cause blindness. However, the most common symptom in infants is an inflammatory response that develops during the first three weeks of life. Hyperthermia causes anencephaly, which is when part of the brain and skull are absent in the infant. Mother exposure to toxoplasmosis can cause cerebral calcification, hydrocephalus (causes mental disabilities), and mental retardation in infants. Other birth abnormalities have been reported as well, such as chorioretinitis, microphthalmus, and ocular defects. Syphilis causes congenital deafness, mental retardation, and diffuse fibrosis in organs, such as the liver and lungs, if the embryo is exposed.
Lack of nutrients
Further information: Nutrition in pregnancy
For example, a lack of folic acid, a vitamin B, in the diet of a mother can cause cellular neural tube deformities that result in spina bifida. Congenital disorders such as a neural tube deformity (NTD) can be prevented by 72% if the mother consumes 4 milligrams of folic acid before the conception and after 12 weeks of pregnancy. Folic acid, or vitamin B9, aids the development of the foetal nervous system.
Studies with mice have found that food deprivation of the male mouse prior to conception leads to the offspring displaying significantly lower blood glucose levels.
External physical shocks or constrainment due to growth in a restricted space, may result in unintended deformation or separation of cellular structures resulting in an abnormal final shape or damaged structures unable to function as expected. An example is Potter syndrome due to oligohydramnios. This finding is important for future understandings of how genetics may predispose individuals for diseases like obesity, diabetes, and cancer.
For multicellular organisms that develop in a womb, the physical interference or presence of other similarly developing organisms such as twins can result in the two cellular masses being integrated into a larger whole, with the combined cells attempting to continue to develop in a manner that satisfies the intended growth patterns of both cell masses. The two cellular masses can compete with each other, and may either duplicate or merge various structures. This results in conditions such as conjoined twins, and the resulting merged organism may die at birth when it must leave the life-sustaining environment of the womb and must attempt to sustain its biological processes independently.
Main article: Genetic disorder
See also: List of genetic disorders
Genetic causes of congenital anomalies include inheritance of abnormal genes from the mother or the father, as well as new mutations in one of the germ cells that gave rise to the fetus. Male germ cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the germ cells mutates quickly. If an egg is fertilized with sperm that has damaged DNA, there is a possibility that the fetus could develop abnormally.
Genetic disorders or diseases are all congenital, though they may not be expressed or recognized until later in life. Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ systems.
A low socioeconomic status in a deprived neighborhood may include exposure to “environmental stressors and risk factors.” Socioeconomic inequalities are commonly measured by the Cartairs-Morris score, Index of Multiple Deprivation, Townsend deprivation index, and the Jarman score. The Jarman score, for example, considers “unemployment, overcrowding, single parents, under-fives, elderly living alone, ethnicity, low social class and residential mobility.” In Vos’ meta-analysis these indices are used to view the effect of low SES neighborhoods on maternal health. In the meta-analysis, data from individual studies were collected from 1985 up until 2008. Vos concludes that a correlation exists between prenatal adversities and deprived neighborhoods. Other studies have shown that low SES is closely associated with the development of the fetus in utero and growth retardation. Studies also suggest that children born in low SES families are “likely to be born prematurely, at low birth weight, or with asphyxia, a birth defect, a disability, fetal alcohol syndrome, or AIDS.” Bradley and Corwyn also suggest that congenital disorders arise from the mother’s lack of nutrition, a poor lifestyle, maternal substance abuse and “living in a neighborhood that contains hazards affecting fetal development (toxic waste dumps).” In a meta-analysis that viewed how inequalities influenced maternal health, it was suggested that deprived neighborhoods often promoted behaviors such as smoking, drug and alcohol use. After controlling for socioeconomic factors and ethnicity, several individual studies demonstrated an association with outcomes such as perinatal mortality and preterm birth.
For the survivors of the atomic bombing of Hiroshima and Nagasaki, who are known as the Hibakusha, no statistically demonstrable increase of birth defects/congenital malformations was found among their later conceived children, or found in the later conceived children of cancer survivors who had previously received radiotherapy.  The surviving women of Hiroshima and Nagasaki who were able to conceive, though exposed to substantial amounts of radiation, later had children with no higher incidence of abnormalities/birth defects than in the Japanese population as a whole.
Relatively few studies have researched the effects of paternal radiation exposure on offspring. Following the Chernobyl disaster, it was assumed in the 1990s that the germ line of irradiated fathers suffered minisatellite mutations in the DNA, which was inherited by descendants. more recently however, the World Health Organization states, “children conceived before or after their father’s exposure showed no statistically significant differences in mutation frequencies”. This statistically insignificant increase was also seen by independent researchers analyzing the children of the liquidators. Animal studies have shown that incomparably massive doses of X-ray irradiation of male mice resulted in birth defects of the offspring.
In the 1980s, a relatively high prevalence of pediatric leukemia cases in children living near a nuclear processing plant in West Cumbria, UK, led researchers to investigate whether the cancer was a result of paternal radiation exposure. A significant association between paternal irradiation and offspring cancer was found, but further research areas close to other nuclear processing plants did not produce the same results. Later this was determined to be the Seascale cluster in which the leading hypothesis is the influx of foreign workers, who have a different rate of leukemia within their race than the British average, resulted in the observed cluster of 6 children more than expected around Cumbria.
Main articles: Advanced maternal age and Paternal age effect
Certain birth complications can occur more often in advanced maternal age (greater than 35 years). Complications include fetal growth restriction, preeclampsia, placental abruption, pre-mature births, and stillbirth. These complications not only may put the child at risk, but also the mother.
The effects of the fathers age on offspring are not yet well understood and are studied far less extensively than the effects of the mother’s age. Fathers contribute proportionally more DNA mutations to their offspring via their germ cells than the mother, with the paternal age governing how many mutations are passed on. This is because, as humans age, male germ cells acquire mutations at a much faster rate than female germ cells.
Around a 5% increase in the incidence of ventricular septal defects, atrial septal defects, and patent ductus arteriosus in offspring has been found to be correlated with advanced paternal age. Advanced paternal age has also been linked to increased risk of achondroplasia and Apert syndrome. Offspring born to fathers under the age of 20 show increased risk of being affected by patent ductus arteriosus, ventricular septal defects, and the tetralogy of Fallot. It is hypothesized that this may be due to environmental exposures or lifestyle choices.
Research has found that there is a correlation between advanced paternal age and risk of birth defects such as limb anomalies, syndromes involving multiple systems, and Down’s syndrome. Recent studies have concluded that 5-9% of Down’s syndrome cases are due to paternal effects, but these findings are controversial.
There is concrete evidence that advanced paternal age is associated with the increased likelihood that a mother will have a miscarriage or that fetal death will occur.
Although significant progress has been made in identifying the etiology of some birth defects, approximately 65% have no known or identifiable cause. These are referred to as sporadic, a term that implies an unknown cause, random occurrence regardless of maternal living conditions, and a low recurrence risk for future children. For 20-25% of anomalies there seems to be a “multifactorial” cause, meaning a complex interaction of multiple minor genetic anomalies with environmental risk factors. Another 10–13% of anomalies have a purely environmental cause (e.g. infections, illness, or drug abuse in the mother). Only 12–25% of anomalies have a purely genetic cause. Of these, the majority are chromosomal anomalies.
Newborn screening tests were introduced in the early 1960s and initially dealt with just two disorders. Since then tandem mass spectrometry, gas chromatography–mass spectrometry , and DNA analysis has made it possible for a much larger range of disorders to be screened. Newborn screening mostly measures metabolite and enzyme activity using a dried blood spot sample. Screening tests are carried out in order to detect serious disorders that may be treatable to some extent. Early diagnosis makes possible the readiness of therapeutic dietary information, enzyme replacement therapy and organ transplants. Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy. Tandem mass spectroscopy can also be used for IEM, and investigation of sudden infant death, and shaken baby syndrome.
Screening can also be carried out prenatally and can include obstetric ultrasonography to give scans such as the nuchal scan. 3D ultrasound scans can give detailed information of structural anomalies.
Congenital anomalies deaths per million persons in 2012
Disability-adjusted life year for congenital anomalies per 100,000 inhabitants in 2004.
less than 160
more than 950
Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990. The types with the greatest death are congenital heart defects (323,000), followed by neural tube defects (69,000).
Many studies have found that the frequency of occurrence of certain congenital malformations depends on the sex of the child (table). For example, pyloric stenosis occurs more often in males while congenital hip dislocation is four to five times more likely to occur in females. Among children with one kidney, there are approximately twice as many males, whereas among children with three kidneys there are approximately 2.5 times more females. The same pattern is observed among infants with excessive number of ribs, vertebrae, teeth and other organs which in a process of evolution have undergone reduction—among them there are more females. Contrarily, among the infants with their scarcity, there are more males. Anencephaly is shown to occur approximately twice as frequently in females. The number of boys born with 6 fingers is two times higher than the number of girls. Now various techniques are available to detect congenital anomalies in fetus before birth.
About 3% of newborns have a “major physical anomaly”, meaning a physical anomaly that has cosmetic or functional significance. Physical congenital abnormalities are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. Seven to ten percent of all children[clarification needed] will require extensive medical care to diagnose or treat a birth defect.
- Data obtained on opposite-sex twins. ** — Data were obtained in the period 1983–1994.
P. M. Rajewski and A. L. Sherman (1976) have analyzed the frequency of congenital anomalies in relation to the system of the organism. Prevalence of men was recorded for the anomalies of phylogenetically younger organs and systems.
In respect of an etiology, sexual distinctions can be divided on appearing before and after differentiation of male’s gonads in during embryonic development, which begins from eighteenth week. The testosterone level in male embryos thus raises considerably. The subsequent hormonal and physiological distinctions of male and female embryos can explain some sexual differences in frequency of congenital defects. It is difficult to explain the observed differences in the frequency of birth defects between the sexes by the details of the reproductive functions or the influence of environmental and social factors.
The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include:
- Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year.
- About 7,000 babies are born with a cleft palate, cleft lip or both.
- Malformative syndrome
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of congenital disorders
- List of ICD-9 codes 740-759: Congenital anomalies
- March of Dimes
- Mitochondrial disease
- Supernumerary body part
- CDC’s National Center on Birth Defects and Developmental Disabilities
- Ewing’s sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome/46,XX testicular disorders of sex development
- Marker chromosome
- Ring chromosome
- 6; 9; 14; 15; 18; 20; 21, 22