syndromic 7 Microphthalmia
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
Also Known As:
Microphthalmia, syndromic 7; Linear skin defects with multiple congenital anomalies 1; MCOPS7; Microphthalmia with Linear Skin Defects Syndrome; Microphthalmia with Linear Skin Lesions Syndrome; Microphthalmia with linear skin defects; Microphthalmia, dermal aplasia, and sclerocornea; Midas Syndrome; Syndromic Microphthalmia-7
Networked: 7
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Barrientos, Antoni:
1 article
(12/2004)
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2. | Diaz, Franscisca:
1 article
(12/2004)
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3. | Moraes, Carlos T:
1 article
(12/2004)
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4. | Cormier, Trena A:
1 article
(12/2002)
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5. | Garcia, Jesus J:
1 article
(12/2002)
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6. | Haupt, Bisong:
1 article
(12/2002)
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7. | McCall, Alanna E:
1 article
(12/2002)
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8. | Prakash, Siddharth K:
1 article
(12/2002)
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9. | Sierra, Rebecca:
1 article
(12/2002)
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10. | Van Den Veyver, Ignatia B:
1 article
(12/2002)
|
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to syndromic 7 Microphthalmia:
Therapies and Procedures