Cornelia de Lange syndrome

Orpha code: 199OMIM code: 614701

Definition

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present.

Disease data
Classification

Malformation syndrome

Synonyms
Brachmann-de Lange syndrome
Zespół Brachmanna i de Lange
CdLS
ORPHA code
199
OMIM code
614701
ICD10 code
Q87.1
ICD11 code
LD2F.1Y

No additional description.

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