Mental retardation; nervous system abnormalities; and other diseases of the nervous system associated with defects in the structure or number of chromosomes.
A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands.
A rare chromosomal disorder that is apparent at birth, is characterized by a distinctive high, shrill, mewing, "kitten-like" cry during infancy.
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of Wilms' tumor (W), ANIRIDIA (A), genitourinary abnormalities (G), and mental retardation (R).
Williams syndrome is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by mental disability, heart defects and unusual facial features.
Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Clinical features include mental retardation, seizures, distinct facial appearance, and midline closure defects. The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, now are considered as a part of Wolf-Hirschhorn syndrome.