This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide.
This dictionary covers them all. Examples:
Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts.
Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.
Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, de formities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.