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Results 81 - 90 of 95 for Short face
  1. 3MC syndrome 
    ... to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  2. Knobloch syndrome 
    ... detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and ... Most COL18A1 gene mutations lead to an abnormally short version of the genetic blueprint used to make ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  3. X-linked intellectual disability, Siderius type 
    ... condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a ... Most PHF8 gene mutations lead to an abnormally short protein that gets transported out of the cell' ...
    https://medlineplus.gov/...ked-intellectual-disability-siderius-type - Genetics
  4. Schwartz-Jampel syndrome 
    ... other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression ... wide at the ends, so affected individuals have short stature. The long bones may also be abnormally ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  5. Lateral meningocele syndrome 
    ... a flat appearance of the middle of the face and cheekbones (midface and malar hypoplasia); low-set ... result in a NOTCH3 protein with an abnormally short (truncated) NICD. The shortened protein is missing the ...
    https://medlineplus.gov/.../condition/lateral-meningocele-syndrome - Genetics
  6. Lipoid proteinosis 
    ... in infancy in the mouth and on the face and limbs. Over time, these scabs form blisters ... which can include headaches, aggressive behaviors, paranoia, hallucinations, short-term memory loss, and absence of fear. These ...
    https://medlineplus.gov/genetics/condition/lipoid-proteinosis - Genetics
  7. Sjögren-Larsson syndrome 
    ... torso, and the extremities. The skin of the face is usually not affected.People with this condition ... speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  8. Carpenter syndrome 
    ... between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones ... or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  9. Woodhouse-Sakati syndrome 
    ... certain characteristic facial features, including a long, triangular face; widely spaced eyes (hypertelorism); and a prominent bridge ... syndrome result in a protein that is abnormally short and breaks down quickly or whose usual function ...
    https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome - Genetics
  10. Epilepsy-aphasia spectrum 
    ... sleep, cause twitching, numbness, or tingling of the face or tongue, often causing drooling and impairing speech. ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
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