Summary: Congenital anomaly of abnormally short fingers or toes.

Top Publications

  1. Page M, Hooper A, Glendenning P, Burnett J. Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. BMJ Case Rep. 2017;2017: pubmed publisher
    ..She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions...
  2. Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. Cytogenet Genome Res. 2017;152:132-136 pubmed publisher
    ..Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism. ..