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Results 1 - 10 of 44 for Abnormality of the upper limb
  1. Holt-Oram syndrome 
    Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  2. Klippel-Trenaunay syndrome 
    ... third major feature of Klippel-Trenaunay syndrome. These abnormalities include ... Veins deep in the limbs can also be abnormal in people with Klippel- ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  3. Boomerang dysplasia 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape. ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  4. Action myoclonus–renal failure syndrome 
    ... These myoclonic jerks typically occur in the torso; upper and lower limbs; and ... by abnormalities in the inner ear (sensorineural hearing loss). Severe ...
    https://medlineplus.gov/.../action-myoclonus-renal-failure-syndrome - Genetics
  5. PITX1 gene 
    ... toes (polydactyly), specifically a severe form of the abnormality called ... lower limbs. The upper limbs are normal in individuals with these PITX1 ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  6. Dopa-responsive dystonia 
    ... the lower limbs. The dystonia spreads to the upper limbs over time; ... called parkinsonism. These abnormalities include unusually slow movement ( ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  7. Distal hereditary motor neuropathy, type V 
    ... distal type V Spinal muscular atrophy, distal, with upper limb predominance Genetic Testing Registry: Neuronopathy, distal hereditary motor, ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  8. Miller syndrome 
    ... mainly affects the development of the face and limbs. The severity of this ... abnormalities frequently cause feeding problems in infants with Miller ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  9. Poland syndrome 
    ... on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.People with Poland syndrome ...
    https://medlineplus.gov/genetics/condition/poland-syndrome - Genetics
  10. Peters plus syndrome 
    ... Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).The ... Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities. Peters ...
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
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