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Results 1 - 10 of 83 for Abnormally large globe
  1. Greig cephalopolysyndactyly syndrome 
    ... This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  2. Camurati-Engelmann disease 
    ... unusually thick skull, which can lead to an abnormally large head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal bossing), and bulging eyes with shallow eye sockets (ocular proptosis). These changes ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  3. Ocular albinism 
    ... in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism.Rare cases ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  4. GPR143 gene 
    ... in skin cells and the retina can grow abnormally large. It is unclear how these giant melanosomes (macromelanosomes) are related to vision loss and other eye abnormalities in people with ocular albinism.Most forms ...
    https://medlineplus.gov/genetics/gene/gpr143 - Genetics
  5. Chediak-Higashi syndrome 
    ... called melanosomes (which are related to lysosomes) are abnormally large. Melanosomes produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  6. LYST gene 
    ... called melanosomes (which are related to lysosomes) are abnormally large. These structures produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  7. DNMT3A overgrowth syndrome 
    ... childhood or adolescence. They may also have an abnormally large head size ... eyes (narrowed palpebral fissures). Additionally, the upper front teeth ...
    https://medlineplus.gov/.../condition/dnmt3a-overgrowth-syndrome - Genetics
  8. Arterial tortuosity syndrome 
    ... mouth (palate); a small lower jaw (micrognathia); and large ears. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). Arterial tortuosity syndrome is a rare ...
    https://medlineplus.gov/.../condition/arterial-tortuosity-syndrome - Genetics
  9. Bohring-Opitz syndrome 
    ... center of the brain (ventricles) may be usually large (ventriculomegaly) or the tissue that connects the left and right halves of the brain (the corpus callosum) can be abnormally thin.Eye problems that can affect vision also occur in ...
    https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome - Genetics
  10. Fryns syndrome 
    ... nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small ... small eyes (microphthalmia), clouding of the clear outer covering of ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
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