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Results 1 - 10 of 195 for Abnormality of globe size
  1. Stormorken syndrome 
    ... is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  2. Renal coloboma syndrome 
    ... light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  3. Roberts syndrome 
    ... mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beaked nose. They may have a small head size (microcephaly) or clouding of the clear front covering ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  4. CREBBP gene 
    ... rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the heart, genitals, roof of the mouth, or the eyes.While other genes can be included in the duplicated region, depending on its size, research shows that the CREBBP gene is most ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  5. Chromosome 16 
    ... rigid joints (arthrogryposis). Some affected individuals also have abnormalities of the heart, genitals, roof of the mouth, or the eyes.While other genes can be included in the duplicated region, depending on its size, research shows that the CREBBP gene is most ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  6. Rett syndrome 
    ... and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, ...
    https://medlineplus.gov/genetics/condition/rett-syndrome - Genetics
  7. Diamond-Blackfan anemia 
    ... of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  8. ALG12-congenital disorder of glycosylation 
    ... seizures.Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can include folds of skin that cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, and abnormally ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  9. HIVEP2-related intellectual disability 
    ... features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  10. Microphthalmia 
    ... one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye ( ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
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