Microphthalmia and mental deficiency

Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia

Also Known As:

Colobomatous microphthalmia; Microphthalmia, colobomatous; Microphthalmos, severe mental retardation, and spastic cerebral palsy; Pinsky DiGeorge Harley syndrome

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hypogonadism (Hypergonadotropic Hypogonadism)
2.	Hypertelorism
3.	Glaucoma
4.	Corneal Opacity
5.	Cataract (Cataracts)

Experts

1.	Brasseur, Benjamin: 1 article (05/2016)
2.	Burmeister, Lynn: 1 article (05/2016)
3.	Cayci, Zuzan: 1 article (05/2016)
4.	Martin, Cindy M: 1 article (05/2016)
5.	Schimmenti, Lisa A: 1 article (05/2016)
6.	Atwal, Paldeep S: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Microphthalmia and mental deficiency:

1.	Growth Hormone (Somatotropin)IBA 05/01/2016 - "We report an individual with Bosma syndrome who had bilateral colobomatous microphthalmia, arhinia, high arched palate, mild ear malformations, and hypogonadotropic hypogonadism requiring growth hormone treatment in childhood, and normal intelligence. "
2.	Retinaldehyde (Retinal)IBA 12/01/2015 - "Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. "