(unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct...
25 KB (2,173 words) - 09:44, 18 March 2024
Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with...
3 KB (270 words) - 07:08, 15 April 2024
non-ocular malformations. Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. Syndromic microphthalmias are caused by mutations in...
13 KB (538 words) - 09:46, 18 March 2024
Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease...
3 KB (248 words) - 00:04, 7 May 2024
Oculofaciocardiodental syndrome (redirect from Cataract microphthalmia septal defect)
Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features...
4 KB (322 words) - 12:15, 25 October 2023
severity, and can include microphthalmia. BMP4 is also linked to anophthalmia, as well as causing myopia and microphthalmia. It is dominantly inherited...
20 KB (2,228 words) - 06:46, 24 August 2024
CHARGE syndrome (redirect from Colobomatous microphthalmia heart disease hearing)
PMID 469662. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ (1979). "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome". Journal...
14 KB (1,581 words) - 01:36, 19 August 2024
Arrhinia (redirect from Arhinia choanal atresia microphthalmia)
and syndromes: Arrhinia with choanal atresia and microphthalmia syndrome (Bosma arhinia microphthalmia syndrome) Holoprosencephaly 1 Holoprosencephaly...
8 KB (775 words) - 16:20, 27 July 2024
displacement of the lens, equatorial staphyloma, night blindness and microphthalmia. Audio impairment or deafness usually develops after the birth of a...
19 KB (1,954 words) - 01:56, 23 June 2024
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded...
43 KB (4,822 words) - 22:18, 10 June 2024