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Definition

A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients.

Acronym

MCSKS

Synonyms

MCOPS14
Microphthalmia, syndromic, 14
Microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia

Keywords

Microphthalmia