Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

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Synonyms: Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure global developmental delay profound intellectual disability autistic behaviors acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly broad forehead thin eyebrows upslanting palpebral fissures large ears with prominent antihelix prominent nose long philtrum thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia brisk reflexes dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.

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 May 2024

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