• (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
  • Thumbnail for Microphthalmia–dermal aplasia–sclerocornea syndrome
    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
  • Thumbnail for Oculofaciocardiodental syndrome
    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
  • Thumbnail for Anophthalmia
    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
  • Thumbnail for CHARGE syndrome
    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
  • Thumbnail for Arrhinia
    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
  • Thumbnail for Australian Shepherd
    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
  • Thumbnail for Microphthalmia-associated transcription factor
    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