Microphthalmia with linear skin defects syndrome

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with multiple congenital anomalies (LSDMCA). Distinctive linear skin defects are usually limited to the face and neck with areas of aplastic skin. Additional features include facial dysmorphisms, sclerocornea, corneal opacities, agenesis of the corpus callosum, ventriculomegaly, microcephaly, intellectual disability, seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC), have been identified in MLS-affected females.