microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Findings
No curated finding names microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013735), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
- Also called
- microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome