MIDAS-syndrome Q11.2

LI Al Gazali, 1990; R. Happle 1993

MIDAS is the acronym for

• Microphthalmia
• Dermal Aplasia
• Sclerocornea

Associated symptoms are abnormalities of the brain and heart. MIDAS is a very rare congenital disorder with a combination of microphthalmia with other malformations such as aplasia of the cutis and sclerocornea. It is a form of syndromic microphthalmia.

The incidence is reported to be < 1 in 1,000,000. Less than 50 affected individuals have been reported to date. Inheritance is X-linked dominant.

The disease is caused by mutations in the HCCS gene, which is located on the X chromosome at gene locus p22.2. The gene encodes the holocytochrome C-type synthase.

Ocular malformations: microphthalmia, orbital cyst, corneal opacity, skin defects linear on the neck, head and chin. In addition, corpus callosum agenesis, sclerocornea, chorioretinal changes, hydrocephalus, epilepsy, mental retardation and nail dystrophy may occur.

In contrast to focal dermal hypoplasia, there is no hernia-like swelling of the adipose tissue in MIDAS syndrome.

1. Banganho D et al (2019) Microphthalmia with linear skin defects syndrome (MIDAS). BMJ Case Rep 12:e227791
2. Happle R et al (1993) MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47:710-713
3. Dereure O (2013) Mutations de COX 7B dans le syndrome MIDAS ou microphtalmie avec lésions cutanées linéaires. Annales de dermatologie et de venereologie 140: 405-406