Microphthalmia syndromic 3

Common Name(s)

Microphthalmia syndromic 3

Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by {20:Numakura et al., 2010}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microphthalmia syndromic 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.