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Microphthalmia with linear skin defects syndrome

Orpha number ORPHA2556
Synonym(s) MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia - dermal aplasia - sclerocornea
Syndromic microphthalmia type 7
Prevalence <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Neonatal/infancy
ICD-10
  • Q11.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.


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Detailed information

Clinical genetics review
  • EN (2011)
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