SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1332382002
http://purl.bioontology.org/ontology/SNOMEDCT/1332382002
Preferred Name

COMMAD syndrome

Definitions
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.
Synonyms
COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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