Talk:Musculoskeletal System - Limb Abnormalities: Difference between revisions
From Embryology
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There are several types of Brachydactyly: | There are several types of Brachydactyly: | ||
{| class="wikitable" | {| class="wikitable" | ||
| width=150px | '''Type''' | | | width=150px | '''Type''' || '''OMIM''' || '''Gene ''' || '''Locus (genetics)''' || '''Also known as/Description''' | ||
|- | |- | ||
|Type A1, BDA1|| {{OMIM2|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 [[phalanx bones|phalanges]], Extra [[carpal bone]]s, [[Hypoplasia|Hypoplastic]] or absent [[ulna]] and Short [[metacarpal]] bones. | |Type A1, BDA1|| {{OMIM2|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 [[phalanx bones|phalanges]], Extra [[carpal bone]]s, [[Hypoplasia|Hypoplastic]] or absent [[ulna]] and Short [[metacarpal]] bones. | ||
Revision as of 14:28, 15 August 2010
Brachydactyly
http://en.wikipedia.org/wiki/Brachydactyly
There are several types of Brachydactyly:
| Type | OMIM | Gene | Locus (genetics) | 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. |
| 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. |
