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Results 1 - 10 of 39 for Brachydactyly
  1. ... longer than normal, and the fingers are short (brachydactyly), similar to the proportions of bones found in ... affected person has one parent with the condition. Brachydactyly with joint dysplasia Brachydactyly-elbow wrist dysplasia syndrome ...
  2. ... 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.") ...
  3. ... affected individuals have unusually short fingers and toes (brachydactyly), often with abnormally short fourth toes that may ... 2q37 microdeletion syndrome Albright hereditary osteodystrophy-like syndrome Brachydactyly-mental retardation syndrome Chromosome 2q37 deletion syndrome (disorder) ...
  4. ... stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with ... genetic change from one parent with the condition. Brachydactyly-spherophakia syndrome Brachymorphy with spherophakia syndrome Congenital mesodermal ...
  5. Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... that often include unusually short fingers and toes (brachydactyly).Researchers are working to identify all of the ... cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. Eur J Med Genet. 2006 May- ...
  9. ... 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, ...
  10. ... 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 ...
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