Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Orpha code: 1236OMIM code:

Definicja

A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Zespół Bd
Kod ORPHA
1236
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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