Brachydactyly
(Redirected from Ballard syndrome)
Brachydactyly is abnormal shortness of fingers and toes
Etiology[edit | edit source]
Greek Brachy means short and dactyly means fingers
Causes[edit | edit source]
Most cases are due to abnormal genes.
Types[edit | edit source]
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[edit | edit source]
- 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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