• Pallister-Killian syndrome is a rare congenital genetic disorder that cannot be detected through prenatal blood tests because it occurs only in the chromosomes of skin cells?
• the congenital disorder fibrochondrogenesis may result in dwarfism, shortened ribs with a concave appearance, a severely underdeveloped jaw, an enlarged head, and even death during infancy?
• Johanson-Blizzard syndrome, a recessive congenital disorder, can cause abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure?
• Antley-Bixler syndrome is a rare but severe congenital malformation disorder with symptoms that include flat forehead, closure of cranial sutures and fused bones in the limbs?
• mutations in the FLNB gene cause boomerang dysplasia, a lethal congenital disorder in which the limbs' long bones malform into the shape of a boomerang?
• Australian ophthalmologist Sir Norman McAlister Gregg discovered the link between rubella and congenital disorders in newborn infants after overhearing several of his patients discussing their illness during pregnancy?

Facts on topics related to Congenital disorder

Birth defect

• about one out of five babies born from an abdominal pregnancy has a birth defect?