De Lange Syndrome
Synonyms
Amstelodamensis, Typus Degenerativus
Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome
CdLS, X-Linked
CdLS2
Cornelia De Lange Syndrome
Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 2
Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome, X Linked
Cornelia de Lange Syndrome, X-Linked
De Lange's Syndrome
Syndrome, Brachmann-De Lange
Syndrome, De Lange
Syndrome, De Lange's
Typus Degenerativus Amstelodamensis
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. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
See Also