SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/721879006
http://purl.bioontology.org/ontology/SNOMEDCT/721879006
Preferred Name

Microphthalmia with linear skin defect syndrome

Definitions
Syndrome with characteristics of 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.
Synonyms
MIDAS syndrome
MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome
Syndromic microphthalmia type 7
Microphthalmia with linear skin defect syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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