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

More general terms

• microphthalmia (nanophthalmos)