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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]
Caudal regression syndrome. Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine —the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births.
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.
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
Teratology. Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [ 1 ][ 2 ] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [ 2 ]
1 in 100,000 births. Cyclopia (named after the Greek mythology character cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Anencephaly. Death typically occurs within hours to days after birth. Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually ...
Medical genetics. Named after. John Bingham Roberts. Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.