SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/715484003
http://purl.bioontology.org/ontology/SNOMEDCT/715484003
Preferred Name

Ophthalmomandibulomelic dysplasia

Definitions
Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
Synonyms
OMM (ophthalmomandibulomelic) syndrome
Pillay syndrome
Ophthalmomandibulomelic dysplasia (disorder)
Type http://www.w3.org/2002/07/owl#Class
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