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Brachydactyly

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Brachydactyly is abnormal shortness of fingers and toes

Brachydaktylie Typ D einseitig
Brachydaktylie Typ D einseitig

Etiology

Greek Brachy means short and dactyly means fingers

Causes

Most cases are due to abnormal genes.

Types

Brachydactyly is classified in to type A (which is further classified in to A1-A7), B, C, D, E, A1B, and BE.

There are several types of Brachydactyly:

Type OMIM Gene Locus Also known as/Description
Type A1, BDA1 Online Mendelian Inheritance in Man (OMIM) 112500 IHH BDA1B 5p13.3-p13.2, 2q33-q35 Brachydactyly type A1 or Farabee-type brachydactyly. BDA1 is an autosomal dominant inherited disease. Features include: Brachydactyly, Short or absent phalanges, Extra carpal bones, Hypoplastic or absent ulna and Short metacarpal bones.
Type A2, BDA2 Online Mendelian Inheritance in Man (OMIM) 112600 BMPR1B GDF5 20q11.2, 4q23-q24 Brachydactyly type A2, Brachymesophalangy II or Brachydactyly Mohr-Wriedt type. Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened.
Type A3, BDA3 Online Mendelian Inheritance in Man (OMIM) 112700 Brachydactyly type A3, Brachymesophalangy V or Brachydactyly-Clinodactyly.
Type A4, BDA4 Online Mendelian Inheritance in Man (OMIM) 112800 Brachydactyly type A4, Brachymesophalangy II and V or Brachydactyly Temtamy type
Type A5, BDA5 Online Mendelian Inheritance in Man (OMIM) 112900 Brachydactyly type A5 nail dysplasia.
Type A6, BDA6 Online Mendelian Inheritance in Man (OMIM) 112910 Brachydactyly type A6 or Osebold-Remondini syndrome.
Type A7, BDA7 Brachydactyly type A7 or Brachydactyly Smorgasbord type.[1]
Type B, BDB (or BDB1) Online Mendelian Inheritance in Man (OMIM) 113000 ROR2 9q22 Brachydactyly type B.
Type C, BDC Online Mendelian Inheritance in Man (OMIM) 113100 GDF5 20q11.2 Brachydactyly type C or Brachydactyly Haws type.
Type D, BDD Online Mendelian Inheritance in Man (OMIM) 113200 HOXD13 2q31-q32 Brachydactyly type D. Referred to inaccurately ("clubbing is a clinically descriptive term, referring to the bulbous uniform swelling of the soft tissue of the terminal phalanx of a digit")[2] as "clubbed thumbs".
Type E, BDE Online Mendelian Inheritance in Man (OMIM) 113300 HOXD13 2q31-q32 Brachydactyly type E.
Type B and E Online Mendelian Inheritance in Man (OMIM) 112440 ROR2 HOXD13 9q22, 2q31-q32 Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly.
Type A1B, BDA1B Online Mendelian Inheritance in Man (OMIM) 607004 5p13.3-p13.2 Brachydactyly type A1, B.

External links

External links

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