Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

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Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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