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Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes.
Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3rd (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist. A nomogram can be found in the Appendix of Jones, ed. Smith's Recognizable Patterns of Human Malformation, 5th edition, Philadelphia: Saunders (1997).
There are several types of Brachydactyly:
| Type |
OMIM |
Gene |
Locus |
Also known as/Description |
| Type A1, BDA1 |
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 |
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 |
112700 |
|
|
Brachydactyly type A3, Brachymesophalangy V or Brachydactyly-Clinodactyly. |
| Type A4, BDA4 |
112800 |
|
|
Brachydactyly type A4, Brachymesophalangy II and V or Brachydactyly Temtamy type |
| Type A5, BDA5 |
112900 |
|
|
Brachydactyly type A5 nail dysplasia. |
| Type A6, BDA6 |
112910 |
|
|
Brachydactyly type A6 or Osebold-Remondini syndrome. |
| Type A7, BDA7 |
|
|
|
Brachydactyly type A7 or Brachydactyly Smorgasbord type.[1] |
| Type B, BDB (or BDB1) |
113000 |
ROR2 |
9q22 |
Brachydactyly type B. |
| Type C, BDC |
113100 |
GDF5 |
20q11.2 |
Brachydactyly type C or Brachydactyly Haws type. |
| Type D, BDD |
113200 |
HOXD13 |
2q31-q32 |
Brachydactyly type D. Referred to colloquially as "clubbed thumbs" or "toe thumbs". |
| Type E, BDE |
113300 |
HOXD13 |
2q31-q32 |
Brachydactyly type E. |
| Type B and E |
112440 |
ROR2 HOXD13 |
9q22, 2q31-q32 |
Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly. |
| Type A1B, BDA1B |
607004 |
|
5p13.3-p13.2 |
Brachydactyly type A1, B. |
Other syndromes [edit]
In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down syndrome, Cushing syndrome, Rubinstein-Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.
See also [edit]
References [edit]
External links [edit]
 Brachydactyly! I have thumbs that make me an NES superstar. Jealous? :-D. |  Brachydactyly Post and Read Experiences about living with Brachydacty http://www.brachydactyly.com. |  Kardashian Kolor for Nicole by OPI Review Three Kardashian Kolors Review! $7 at Wal-Mart Rainbow in the S-Kylie, Sealed with a Kris, Kendall on the Katwalk ps. don't hate on my chubby stubby fingers.... |  We've Heard All the Stories (Original Song) Original Song We've Heard All the Stories by Katy Scholten written and performed by Katy Scholten. |  Cimorelli Exclusive Interview: The Partners Project Episode 30 Cimorelli is a musical group consisting of six sisters made famous for their covers and original music. Since starting YouTube in 2008 they have amassed a fo... |  Toethumb Barbie.avi Double toethumbs. (Toe thumb, stub thumb, club/ clubbed thumb, midget thumb, potter's thumb, hammerhead thumbs, fat thumb, weird thumb, stumpy thumb, brachyd... |  Toethumb - Toethumbs - Judith Godreche (Low Cost) Judith Godreche toethumbs (Movie title: Low Cost) Toe thumb, stub thumb, club/ clubbed thumb, midget thumb, potter's thumb, hammerhead thumbs, fat thumb, wei... |  The Rabbit by Miike Snow-Piano Cover by Katy Scholten Piano cover of the song The Rabbit by Miike Snow, written and composed by Miike Snow, arranged and performed by Katy Scholten. All rights to the song belong ... |  1 handed compleet belettering/wrap van een armprothese. Niets is ons te gek. |  One Handed Karting |
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StarCrush
Fri, 17 May 2013 12:24:29 -0700
Megan Fox has an interesting condition called club thumb (or in not so layman's terms, brachydactyly), which is an inherited generic trait. Or, if you ask the tabloids, her thumbs are actually toes. Fox is so self-conscious of her thumbs that she's ...
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