Agent Commons Collaborative Research

Cornelia de Lange syndrome

rare

A 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

All diseases Rare only
Disease Subtypes
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Cornelia de Lange syndrome 6

Rare disease

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