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Results 1 - 10 of 12 for brachydactyly
  1. ... been identified in people with a disorder called brachydactyly type B1. This condition is characterized by abnormally ... malformed or absent fingernails and toenails. (The term "brachydactyly" is from the Greek words for "short digits.") ...
  2. ... that often include unusually short fingers and toes (brachydactyly).The chromosomal region that is deleted in 2q37 ... a mutation in only the HDAC4 gene have brachydactyly with no other health problems, while others have ...
  3. ... a disorder called metaphyseal dysplasia, maxillary hypoplasia, and brachydactyly (MDMHB). This condition is characterized by abnormalities near ... an underdeveloped upper jawbone (maxilla), and short fingers (brachydactyly). Other skeletal abnormalities can also occur in this ...
  4. ... like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short fingers and ... SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 NOGGIN; NOG BRACHYDACTYLY, TYPE B2; BDB2 NCBI Gene ClinVar Brown DJ, ...
  5. ... Another bone disorder, known as familial digital arthropathy-brachydactyly, has also been associated with mutations in the ... and toes (arthropathy) and shortened fingers and toes (brachydactyly). The mutations that cause this condition appear to ...
  6. ... underdeveloped pelvic bones, unusually short fingers and toes (brachydactyly), flattened spinal bones (platyspondyly), and an exaggerated curvature ... disorder of bone growth is characterized by platyspondyly, brachydactyly, short stature, and other skeletal abnormalities. The COL2A1 ...
  7. ... short stature and unusually short fingers and toes (brachydactyly). A shortage of the ADAMTS10 enzyme also interferes ...
  8. ... development of the arms, resulting in short fingers (brachydactyly), joint deformities called contractures that limit movement of ...
  9. ... also be associated with short fingers and toes (brachydactyly), fusion of some of the fingers or toes ( ...
  10. ... arms and legs, and short fingers and toes (brachydactyly). This combination of features has been described as ...
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