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syndromic microphthalmia 7 (MCOPS7); microphthalmia with linear skin defects; microphthalmia, dermal aplasia & sclerocornea [MIDAS] syndrome
Genetics:
- X-linked dominant disorder
- associated with defects in HCCS
Clinical manifestations:
- unilateral or bilateral microphthalmia & linear skin defects
- limited to the face & neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas in affected females & in utero lethality for males
- additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, & diaphragmatic hernia
General
microphthalmia (nanophthalmos)
References
UniProt :accession P53701