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Results 11 - 20 of 182 for Abnormality of limbs
  1. Camurati-Engelmann disease 
    ... individuals develop a waddling or unsteady walk. Additional limb abnormalities include joint deformities (contractures), knock knees, and flat feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal curvature of the spine can ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  2. Esophageal atresia/tracheoesophageal fistula 
    ... atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at ...
    https://medlineplus.gov/...phageal-atresia-tracheoesophageal-fistula - Genetics
  3. CHILD syndrome 
    ... while others have shortened or missing limbs. The limb abnormalities typically occur on the same side of the ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  4. PITX1 gene 
    ... 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
  5. Beta-mannosidosis 
    ... hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
  6. Triple A syndrome 
    ... commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  7. FGFR1 gene 
    ... the arms and legs, leading to the craniofacial abnormalities and shortened limbs seen in people with osteoglophonic dysplasia. This overactive ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  8. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 
    ... thrive).Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less ...
    https://medlineplus.gov/...odermal-defects-cleft-lip-palate-syndrome - Genetics
  9. Atelosteogenesis type 1 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  10. Atelosteogenesis type 3 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
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