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Results 1 - 10 of 31 for Anophthalmia
  1. SOX2 anophthalmia syndrome 
    SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.People with SOX2 anophthalmia ...
    https://medlineplus.gov/.../condition/sox2-anophthalmia-syndrome - Genetics
  2. Anophthalmia and Microphthalmia From the National Institutes of Health (National Eye Institute)  
    Eye Diseases/Children ... Eye Diseases ... Birth Defects/Specifics ... Birth Defects ... National Eye Institute ... Anophthalmia means one or both eyes are smaller than normal. ...
    https://www.nei.nih.gov/.../anophthalmia-and-microphthalmia - External Health Links
  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. Microphthalmia 
    ... 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/microphthalmia - Genetics
  5. SOX2 gene 
    ... SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene ... structures causes the signs and symptoms of SOX2 anophthalmia syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/sox2 - 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. OTX2 gene 
    ... Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional ... Fujieda K. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  8. 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
  9. Birth Defects (National Library of Medicine)  
    What are birth defects? A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the ...
    https://medlineplus.gov/birthdefects.html - Health Topics
  10. Eye Diseases (National Library of Medicine)  
    Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include: Refractive errors Cataracts - ...
    https://medlineplus.gov/eyediseases.html - Health Topics
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