Brachydactyly
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
| This article is a stub. You can help WikiMD by registering to expand it. |
Portions of content adapted from Wikipedia's article on Brachydactyly which is released under the CC BY-SA 3.0.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
