Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
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 September 2023.
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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