- Concept UI
- M0005689
- Scope Note
- 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)
- Terms
-
De Lange Syndrome
Preferred Term
Term UI
T365394
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
Typus Degenerativus Amstelodamensis
Term UI
T365404
Date11/03/1999
LexicalTag
NON
ThesaurusID
-
De Lange's Syndrome
Term UI
T010602
Date01/01/1999
LexicalTag
EPO
ThesaurusID
NLM (1964)
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Brachmann-De Lange Syndrome
Term UI
T365402
Date11/03/1999
LexicalTag
EPO
ThesaurusID
-
Cornelia De Lange Syndrome
Term UI
T365403
Date11/03/1999
LexicalTag
EPO
ThesaurusID