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Results 1 - 10 of 60 for Abnormality of the lower limb
  1. PITX1 gene 
    ... PITX1 gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) ... toes (polydactyly), specifically a severe form of the abnormality called ... of the lower limbs. The upper limbs are normal in individuals with ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  2. Troyer syndrome 
    ... characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees. ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  3. Andersen-Tawil syndrome 
    ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities (such as crowded teeth), ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  4. Roberts syndrome 
    ... syndrome.Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  5. Spastic paraplegia type 15 
    ... movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the lower limbs; muscle wasting (amyotrophy); or reduced bladder control. Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  6. Fragile X-associated tremor/ataxia syndrome 
    ... movement problems, such as a pattern of movement abnormalities known as ... limbs (peripheral neuropathy). Some people with FXTAS experience problems ...
    https://medlineplus.gov/...agile-x-associated-tremor-ataxia-syndrome - Genetics
  7. Caudal regression syndrome 
    ... of the spine (lordosis or kyphosis). The spinal abnormalities may affect the ... joints in the lower limbs may be unusually stiff and difficult to move. ...
    https://medlineplus.gov/.../condition/caudal-regression-syndrome - Genetics
  8. Dandy-Walker malformation 
    ... experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition.Less commonly, other brain abnormalities have been reported in people with Dandy-Walker ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  9. Spastic paraplegia type 5A 
    ... types involve spasticity and weakness only in the lower limbs, while the complex ... and disturbances in nerve function (neuropathy). Spastic paraplegia ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  10. Adams-Oliver syndrome 
    ... absence of hair growth in the affected area.Abnormalities of the hands and ... feet, or lower limbs are malformed or missing.Some affected infants have ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
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