MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome

Am J Med Genet. 1993 Oct 1;47(5):710-3. doi: 10.1002/ajmg.1320470525.


Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Corneal Opacity / genetics*
  • Female
  • Focal Dermal Hypoplasia / diagnosis
  • Focal Dermal Hypoplasia / genetics
  • Genetic Linkage
  • Humans
  • Infant
  • Microphthalmos / genetics*
  • Phenotype
  • Skin Abnormalities*
  • Syndrome
  • X Chromosome*