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Cornelia de Lange syndrome
rareA rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
- Identifiers
- MONDO:0016033 Orphanet:199
- Part of
- Congenital limb malformationHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- Brachmann-de Lange syndrome · CDLS
Subtypes
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