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Results 1 - 10 of 19 for Abnormality of lower limb joint
  1. Roberts syndrome 
    ... syndrome.Children with Roberts syndrome are born with abnormalities of all four ... and joint deformities (contractures) commonly occur at the elbows and ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. 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
  3. Camurati-Engelmann disease 
    ... develop a waddling or unsteady walk. Additional limb abnormalities include joint ... and lower jaw (mandible), a prominent forehead (frontal bossing), and ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  4. Frontometaphyseal dysplasia 
    ... called contractures that restrict the movement of certain joints. People with ... a very small lower jaw and chin (micrognathia); and small, missing, or ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
  5. PITX1 gene 
    ... PITX1 gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) and absence or severe shortening of a bone in the lower leg called the tibia (tibial hemimelia). These gene ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  6. Anauxetic dysplasia 
    ... by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  7. COL2A1 gene 
    ... is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Several of the COL2A1 gene variants that ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. Spondyloepimetaphyseal dysplasia, Strudwick type 
    ... severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  9. Freeman-Sheldon syndrome 
    ... and skull (craniofacial muscles) and can often affect joints in the hands and feet. The condition is characterized by abnormalities known as contractures, which result from permanent tightening ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  10. Shprintzen-Goldberg syndrome 
    ... with Shprintzen-Goldberg syndrome can have other skeletal abnormalities, such as one or more fingers that are permanently bent (camptodactyly) and an unusually large range of joint movement (hypermobility).People with Shprintzen-Goldberg syndrome often ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
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