Goldberg-Shprintzen megacolon syndrome

Orpha code: 66629OMIM code: 609460

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).

Disease data
Classification

Malformation syndrome

Synonyms
GOSHS
GOSHS
Okrężnica olbrzymia - mikrocefalia
Megacolon-microcephaly syndrome
ORPHA code
66629
OMIM code
609460
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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