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Results 31 - 40 of 127 for Abnormality of limbs
  1. Frontometaphyseal dysplasia 
    ... People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.Characteristic facial features ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
  2. Klippel-Feil syndrome 
    ... such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  3. Action myoclonus–renal failure syndrome 
    ... a loss of sensation and weakness in the limbs (peripheral neuropathy), or hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss). Severe ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  4. 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 limbs; and other ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  5. Sjögren-Larsson syndrome 
    ... severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  6. Alpha-N-acetylgalactosaminidase deficiency 
    ... mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may also experience a loss of sensation or muscle weakness in the extremities (peripheral neuropathy). Clusters of enlarged blood vessels that ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  7. RAB18 deficiency 
    ... arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  8. Campomelic dysplasia 
    ... inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  9. Spinocerebellar ataxia type 36 
    ... neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.Some people with SCA36 have abnormalities of the eye muscles, which can lead to ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  10. Congenital fibrosis of the extraocular muscles 
    ... a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.Brain abnormalities can also occur in people with CFEOM3. Some ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
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