Microphthalmia, syndromic 7 [Supplementary Concept]
An X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects limited to the face and neck and consisting of areas of aplastic skin that heal with age to form hyperpigmented areas in affected females; affected males dies in utero. Mutations in the HCCS gene have been identified. OMIM: 309801
Date introduced: August 25, 2010
MeSH Unique ID: C537466
Heading Mapped to:
Entry Terms:
- Microphthalmia, dermal aplasia, and sclerocornea
- Microphthalmia with linear skin defects
- Midas Syndrome
- MCOPS7
- Microphthalmia with Linear Skin Defects Syndrome
- Microphthalmia with Linear Skin Lesions Syndrome
- Linear skin defects with multiple congenital anomalies 1
- Syndromic Microphthalmia-7