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Results 1 - 10 of 17 for Anophthalmia
  1. Anophthalmia/Microphthalmia 
    Anophthalmia and microphthalmia are disorders that affect eye development before birth. Microphthalmia is a birth defect in which one or both eyes do not develop ...
    https://medlineplus.gov/.../condition/anophthalmia-microphthalmia - Genetics
  2. Anophthalmia/microphthalmia-esophageal atresia syndrome 
    Anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome is a rare disorder that is characterized by the abnormal development ... are usually born without one or both eyes (anophthalmia), although some individuals have underdeveloped and abnormally small ...
    https://medlineplus.gov/...icrophthalmia-esophageal-atresia-syndrome - Genetics
  3. Ophthalmo-acromelic syndrome 
    ... The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually ... limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  4. SOX2 gene 
    ... cause one or both eyes to be absent (anophthalmia) or underdeveloped and abnormally small (microphthalmia). Because both conditions are characterized by impaired eye development, anophthalmia and microphthalmia are often considered to be related ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  5. OTX2 gene 
    ... cause one or both eyes to be absent (anophthalmia) or underdeveloped and abnormally small (microphthalmia). Because both conditions are characterized by impaired eye development, anophthalmia and microphthalmia are often considered to be related ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  6. Coloboma 
    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  7. SMOC1 gene 
    ... calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet. 2011 Jan 7; ... BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 ...
    https://medlineplus.gov/genetics/gene/smoc1 - Genetics
  8. Frontonasal dysplasia 
    ... dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  9. Bosma arhinia microphthalmia syndrome 
    ... the eyeballs are abnormally small (microphthalmia) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  10. Focal dermal hypoplasia 
    ... small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
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