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Results 21 - 30 of 60 for Developmental defect of the eye
  1. Infantile neuroaxonal dystrophy 
    ... Seizures occur in some affected children.Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same direction ( ... of the nerve that carries information from the eye to the brain (the optic nerve) often occur ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  2. Fryns syndrome 
    ... have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a ... in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  3. CHOPS syndrome 
    ... together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down- ... hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  4. Desmosterolosis 
    ... the roof of the mouth (cleft palate), involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus), heart defects, and seizures. ... This condition is inherited ...
    https://medlineplus.gov/genetics/condition/desmosterolosis - Genetics
  5. Carpenter syndrome 
    ... a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low- ... ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  6. Cohen syndrome 
    ... light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint ... thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  7. Mitochondrial complex V deficiency 
    ... high forehead, curved eyebrows, outside corners of the eyes that point downward (downslanting palpebral fissures), a prominent ... affected individuals also have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss. ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  8. Mitochondrial complex I deficiency 
    ... or kidney problems. Vision problems due to abnormal eye movement or breakdown (degeneration) of the nerves that carry signals from the eyes to the brain (optic nerves) can also occur. ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  9. Smith-Magenis syndrome 
    ... a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The ... lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  10. 3p deletion syndrome 
    ... ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). Other frequent features include skin folds covering the inner corner of the eyes (epicanthal folds), extra fingers or toes (polydactyly), and ...
    https://medlineplus.gov/genetics/condition/3p-deletion-syndrome - Genetics
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