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Limb defects occur in up to 70 percent of babies with VACTERL association and include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits and forearm defects such as radial aplasia. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one ...
Hypospadias is a common malformation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth, [3] although when including milder cases, is found in up to 4% of newborn males. [4]
The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include: [citation needed] 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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. [1] The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. [2]
Spina bifida (SB; / ˈ s p aɪ n ə ˈ b ɪ f ɪ d ə /; [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
It is the second-most common condition due to a third chromosome at birth, after Down syndrome for a third chromosome 21. [4] Trisomy 18 occurs in around 1 in 5,000 live births. [3] Many of those affected die before birth. [3] Some studies suggest that more babies that survive to birth are female. [2] Survival beyond a year of life is around 5 ...
Other anomalies of the classic Potter sequence infant include a parrot beak nose, redundant skin, and the most common characteristic of infants with BRA which is a skin fold of tissue extending from the medial canthus across the cheek. The ears are slightly low and pressed against the head making them appear large.