SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/718576001
http://purl.bioontology.org/ontology/SNOMEDCT/718576001
Preferred Name

Aase Smith type 1 syndrome

Definitions
A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.
Synonyms
Hydrocephalus with cleft palate and joint contracture syndrome
Aase Smith I syndrome
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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