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Results 1 - 10 of 13 for Bent bone dysplasia
  1. FGFR2 gene 
    ... have been found in individuals with conditions called bent bone dysplasia syndrome and Antley-Bixler syndrome.Bent bone dysplasia syndrome is characterized by the underdevelopment of certain ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  2. Campomelic dysplasia 
    ... term "campomelic" comes from the Greek words for "bent limb." Affected individuals ... usually have short legs, dislocated hips, underdeveloped shoulder ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  3. Terminal osseous dysplasia 
    ... in people with this condition typically include permanently bent fingers and ... osseous dysplasia. Many individuals with the condition have dark patches ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  4. Metatarsus adductus 
    ... adductus may also have a problem called developmental dysplasia of the hip (DDH), which allows the thigh bone to slip out of the hip socket.
    https://medlineplus.gov/ency/article/001601.htm - Medical Encyclopedia
  5. FGFR3 gene 
    ... have hearing loss. They can also have permanently bent fingers or toes (camptodactyly) and other skeletal abnormalities. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  6. Progressive pseudorheumatoid dysplasia 
    ... and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often ... protein function likely disrupts normal cartilage maintenance and bone growth, leading to the cartilage degeneration and ... Genetic Testing Registry: Progressive ...
    https://medlineplus.gov/.../progressive-pseudorheumatoid-dysplasia - Genetics
  7. Stüve-Wiedemann syndrome 
    ... legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) ... impaired. The lack of LIFR signaling disrupts normal bone formation, leading to osteopenia, ... SJS2 Stuve-Wiedemann dysplasia Stuve-Wiedemann syndrome Stuve-Wiedemann/Schwartz-Jampel type ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  8. Ehlers-Danlos syndrome 
    ... limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of ... These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the ... CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX EHLERS-DANLOS SYNDROME WITH PLATELET ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  9. Hennekam syndrome 
    ... Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  10. Caudal regression syndrome 
    ... move. In some affected individuals, the legs are bent with the knees pointing out to the side ...
    https://medlineplus.gov/.../condition/caudal-regression-syndrome - Genetics
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