Brachydactyly

Brachydactyly is abnormal shortness of fingers and toes

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.<ref>, Brachydactyly type A-7 (Smorgasbord): a new entity, Clin. Genet., 1989, Vol. 35(Issue: 4), pp. 261–7, DOI: 10.1111/j.1399-0004.1989.tb02940.x, PMID: 2714013,</ref>
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")<ref>, Clubbing of the Nails: Background, Pathophysiology, Epidemiology, , Full text,</ref> 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

• Brachydactyly type A1 at NIH's Office of Rare Diseases

• Brachydactyly type A2 at NIH's Office of Rare Diseases

• Brachydactyly type A3 at NIH's Office of Rare Diseases

• Brachydactyly type A6 at NIH's Office of Rare Diseases

• Brachydactyly type A7 at NIH's Office of Rare Diseases

• Brachydactyly type B at NIH's Office of Rare Diseases

• Brachydactyly type C at NIH's Office of Rare Diseases

• Brachydactyly type E at NIH's Office of Rare Diseases

• Brachydactyly types B and E combined at NIH's Office of Rare Diseases

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