Brachydactyly

Definition:

Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx of the thumb in type D; metacarpals in type E. Type C is characterized by shortening of multiple phalanges and hyperphalangy. BD is caused by improper development of the bones.

References:

[1]. A Polinkovsky, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997 Sep;17(1):18-9. [Content Brief]

[2]. Ashley M Byrnes, et al. Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum Mutat. 2010 Oct;31(10):1155-62. [Content Brief]

[3]. B Gao, et al. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet. 2001 Aug;28(4):386-8. [Content Brief]

[4]. David Johnson, et al. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet. 2003 Apr;72(4):984-97. [Content Brief]

[5]. Eva Klopocki, et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet. 2010 Mar 12;86(3):434-9. [Content Brief]

[6]. K Lehmann, et al. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007 Aug;81(2):388-96. [Content Brief]

[7]. Katarina Dathe, et al. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 2009 Apr;84(4):483-92. [Content Brief]

[8]. Katarina Lehmann, et al. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. [Content Brief]

[9]. Lemuel Racacho, et al. Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. Eur J Hum Genet. 2015 Dec;23(12):1640-5. [Content Brief]

[10]. M Oldridge, et al. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. 2000 Mar;24(3):275-8. [Content Brief]

[11]. Petra Seemann, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005 Sep;115(9):2373-81. [Content Brief]

[12]. Philipp G Maass, et al. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet. 2015 Jun;47(6):647-53. [Content Brief]

[13]. S Mundlos, et al. The brachydactylies: a molecular disease family. Clin Genet. 2009 Aug;76(2):123-36. [Content Brief]

[14]. Samia A Temtamy, et al. Brachydactyly. Orphanet J Rare Dis. 2008 Jun 13;3:15. [Content Brief]

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