DISEASE: Microphthalmia with linear skin defects syndrome
Entry
H01904 Disease
Name
Microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies; MIDAS syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD21 Syndromes with eye anomalies as a major feature
H01904 Microphthalmia with linear skin defects syndrome
Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B
Title
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
