SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/764732004
http://purl.bioontology.org/ontology/SNOMEDCT/764732004
Preferred Name

Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome

Definitions
A rare genetic congenital anomalies/dysmorphic syndrome characterised by growth failure, global developmental delay, profound intellectual disability, autistic behaviour, 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. A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, 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.
Synonyms
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)
Zaki Gleeson syndrome
Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome
Type http://www.w3.org/2002/07/owl#Class
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