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: // Data version September 2023.

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

For a list of clinical trials in this disease area, please click here.