Cornelia de Lange syndrome

Orpha code: 199OMIM code: 614701

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Brachmann-de Lange syndrome
Zespół Brachmanna i de Lange
Kod ORPHA
199
Kod OMIM
614701
Kod ICD10
Q87.1
Kod ICD11
LD2F.1Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl