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Results 31 - 40 of 217 for Abnormality of the face
  1. Hajdu-Cheney syndrome 
    ... to short stature.Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  2. Beare-Stevenson cutis gyrata syndrome 
    ... causing delayed development and intellectual disability.A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and ...
    https://medlineplus.gov/.../beare-stevenson-cutis-gyrata-syndrome - Genetics
  3. RNAse T2-deficient leukoencephalopathy 
    ... facial features sometimes described as a "doll-like face."The neurological problems in this disorder are caused by abnormalities in the brain. People with this condition have ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  4. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.Other structures in the eyes and face may be mildly affected by BPES. Affected individuals ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  5. Oculofaciocardiodental syndrome 
    ... that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes, ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  6. Recombinant 8 syndrome 
    ... a distinctive facial appearance. The most common heart abnormalities are known as tetrology of Fallot and conotruncal defects. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  7. Brain-lung-thyroid syndrome 
    ... brain-lung-thyroid syndrome has brain-related movement abnormalities. Benign hereditary chorea is the most common feature of the syndrome. This feature is associated with involuntary jerking movements (chorea) of the face, torso, and limbs; writhing movements (athetosis) of the ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  8. 3q29 microdeletion syndrome 
    ... stomach contents into the esophagus (gastroesophageal reflux), and abnormalities of the teeth. There may also be a subtle pattern of characteristic facial features, including a long, narrow face; a narrow space between the nose and upper ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  9. Branchio-oculo-facial syndrome 
    ... and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  10. Freeman-Sheldon syndrome 
    ... hands and feet. The condition is characterized by abnormalities known as ... in the face lead to a distinctive facial appearance including a ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
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