Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

Orpha code: 1495OMIM code:

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.

Disease data
Classification

Malformation syndrome

Synonyms
Da Silva syndrome
Zespół Da Silva
ORPHA code
1495
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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