Brachydactyly: Difference between revisions

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Brachydactyly is abnormal shortness of [[fingers]] and [[toes]]
{{Infobox medical condition
[[File:Brachydaktylie Typ D einseitig.jpg|alt=Brachydaktylie Typ D einseitig|thumb|Brachydaktylie Typ D einseitig]]
| name        = Brachydactyly
| image        = Brachydactyly.jpg
| caption      = X-ray of a hand showing brachydactyly
| field        = [[Medical genetics]]
| synonyms    = Short fingers
| symptoms    = Shortened fingers or toes
| complications= Functional limitations
| onset        = Congenital
| duration    = Lifelong
| causes      = Genetic mutations
| diagnosis    = Clinical examination, genetic testing
| treatment    = Symptomatic management
| frequency    = Rare
}}


== Etiology ==
'''Brachydactyly''' is a medical condition characterized by disproportionately short fingers and toes. It is a congenital condition, meaning it is present at birth, and is typically caused by genetic mutations. Brachydactyly can occur as an isolated trait or as part of a syndrome.
Greek Brachy means short and dactyly means fingers


<youtube>
==Classification==
title='''{{PAGENAME}}'''
Brachydactyly is classified into several types based on the specific bones of the fingers or toes that are shortened. The classification system most commonly used is the Bell classification, which includes:
movie_url=http://www.youtube.com/v/QOVxv_XFVnc
&rel=1
embed_source_url=http://www.youtube.com/v/QOVxv_XFVnc
&rel=1
wrap = yes
width=750
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</youtube>


== Causes ==
* '''Type A''': Shortening of the middle phalanges.
Most cases are due to abnormal genes.
* '''Type B''': Shortening of the distal phalanges, often with nail dysplasia.
* '''Type C''': Shortening of the middle phalanges of the index, middle, and little fingers.
* '''Type D''': Shortening of the distal phalanges of the thumbs.
* '''Type E''': Shortening of the metacarpals and metatarsals.


== Types ==
==Genetics==
Brachydactyly is classified in to type A (which is further classified in to A1-A7), B, C, D, E, A1B, and BE.
Brachydactyly is often inherited in an [[autosomal dominant]] pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. However, some forms can be inherited in an [[autosomal recessive]] manner. The condition can be caused by mutations in several different genes, including:


There are several types of Brachydactyly:
* '''[[GDF5]]''': Mutations in this gene are associated with brachydactyly type C.
{| class="wikitable"
* '''[[HOXD13]]''': Mutations can cause brachydactyly type D.
| '''Type''' || '''[[OMIM]]''' || '''Gene ''' || '''[[Locus (genetics)|Locus]]''' || '''Also known as/Description'''
* '''[[BMP2]]''': Associated with brachydactyly type A2.
|-
|Type A1, BDA1|| {{OMIM|112500||none}} || [[IHH (protein)|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 A2, BDA2|| {{OMIM|112600||none}} || [[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|| {{OMIM|112700||none}} ||    || || Brachydactyly type A3, Brachymesophalangy V or Brachydactyly-Clinodactyly.
|-
|Type A4, BDA4|| {{OMIM|112800||none}} || || || Brachydactyly type A4, Brachymesophalangy II and V or Brachydactyly Temtamy type
|-
|Type A5, BDA5|| {{OMIM|112900||none}} || || || Brachydactyly type A5 nail dysplasia.
|-
|Type A6, BDA6|| {{OMIM|112910||none}} || || || Brachydactyly type A6 or Osebold-Remondini syndrome.
|-
|Type A7, BDA7||  || ||  || Brachydactyly type A7 or Brachydactyly Smorgasbord type.<ref>{{cite journal |vauthors=Meiselman SA, Berkenstadt M, Ben-Ami T, Goodman RM |title=Brachydactyly type A-7 (Smorgasbord): a new entity |journal=Clin. Genet. |volume=35 |issue=4 |pages=261–7 |year=1989 |pmid=2714013 |doi= 10.1111/j.1399-0004.1989.tb02940.x|url=}}</ref>
|-
|Type B, BDB (or BDB1)|| {{OMIM|113000||none}} || [[ROR2]] || 9q22|| Brachydactyly type B.
|-
|Type C, BDC|| {{OMIM|113100||none}} || [[GDF5]] || 20q11.2|| Brachydactyly type C or Brachydactyly Haws type.
|-
|[[Brachydactyly type D|Type D]], BDD|| {{OMIM|113200||none}} || [[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>{{Cite journal|title = Clubbing of the Nails: Background, Pathophysiology, Epidemiology|url = http://emedicine.medscape.com/article/1105946-overview}}</ref> as "clubbed thumbs".
|-
|Type E, BDE|| {{OMIM|113300||none}} || [[HOXD13]] || 2q31-q32 || Brachydactyly type E.
|-
|Type B and E|| {{OMIM|112440||none}} || [[ROR2]] [[HOXD13]] || 9q22, 2q31-q32 || Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly.
|-
|Type A1B, BDA1B|| {{OMIM|607004||none}} ||  || 5p13.3-p13.2 || Brachydactyly type A1, B.
|-
|}
== External links ==
*{{Office of Rare Diseases|978|Brachydactyly type A1}}
*{{Office of Rare Diseases|979|Brachydactyly type A2}}
*{{Office of Rare Diseases|980|Brachydactyly type A3}}
*{{Office of Rare Diseases|983|Brachydactyly type A6}}
*{{Office of Rare Diseases|984|Brachydactyly type A7}}
*{{Office of Rare Diseases|985|Brachydactyly type B}}
*{{Office of Rare Diseases|986|Brachydactyly type C}}
*{{Office of Rare Diseases|987|Brachydactyly type E}}
*{{Office of Rare Diseases|959|Brachydactyly types B and E combined}}


{{Congenital malformations and deformations of musculoskeletal system}}
==Clinical Features==
{{stb}}
The primary feature of brachydactyly is the shortening of the digits. This can lead to:
[[Category:Congenital disorders of musculoskeletal system]]
 
{{adapted}}
* Aesthetic concerns due to the appearance of the hands or feet.
* Functional limitations, particularly in fine motor skills.
* Difficulty in wearing certain types of footwear if the toes are affected.
 
==Diagnosis==
Diagnosis of brachydactyly is primarily clinical, based on the physical examination of the hands and feet. [[X-ray]] imaging is used to assess the bone structure and confirm the diagnosis. Genetic testing can identify specific mutations responsible for the condition.
 
==Management==
There is no cure for brachydactyly, but management focuses on addressing any functional limitations. This may include:
 
* Occupational therapy to improve hand function.
* Custom footwear for comfort and function.
* Surgical intervention in severe cases to improve function or appearance.
 
==Prognosis==
The prognosis for individuals with brachydactyly is generally good, as the condition does not typically affect overall health. However, the impact on hand or foot function can vary depending on the severity of the condition.
 
==Epidemiology==
Brachydactyly is a rare condition, with varying prevalence depending on the population studied. It is more commonly reported in certain isolated populations due to genetic factors.
 
==See Also==
* [[Polydactyly]]
* [[Syndactyly]]
* [[Ectrodactyly]]
 
==References==
* Jones, K. L. (1997). ''Smith's Recognizable Patterns of Human Malformation''. Philadelphia: W.B. Saunders Company.
* Online Mendelian Inheritance in Man (OMIM). "Brachydactyly". Retrieved from [https://www.omim.org/]
 
{{Medical conditions of the musculoskeletal system}}
[[Category:Congenital disorders]]
[[Category:Genetic disorders]]
[[Category:Musculoskeletal disorders]]

Revision as of 02:11, 2 January 2025

Brachydactyly
Brachydactyly.jpg
Synonyms Short fingers
Pronounce N/A
Specialty N/A
Symptoms Shortened fingers or toes
Complications Functional limitations
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations
Risks N/A
Diagnosis Clinical examination, genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Symptomatic management
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Brachydactyly is a medical condition characterized by disproportionately short fingers and toes. It is a congenital condition, meaning it is present at birth, and is typically caused by genetic mutations. Brachydactyly can occur as an isolated trait or as part of a syndrome.

Classification

Brachydactyly is classified into several types based on the specific bones of the fingers or toes that are shortened. The classification system most commonly used is the Bell classification, which includes:

  • Type A: Shortening of the middle phalanges.
  • Type B: Shortening of the distal phalanges, often with nail dysplasia.
  • Type C: Shortening of the middle phalanges of the index, middle, and little fingers.
  • Type D: Shortening of the distal phalanges of the thumbs.
  • Type E: Shortening of the metacarpals and metatarsals.

Genetics

Brachydactyly is often inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. However, some forms can be inherited in an autosomal recessive manner. The condition can be caused by mutations in several different genes, including:

  • GDF5: Mutations in this gene are associated with brachydactyly type C.
  • HOXD13: Mutations can cause brachydactyly type D.
  • BMP2: Associated with brachydactyly type A2.

Clinical Features

The primary feature of brachydactyly is the shortening of the digits. This can lead to:

  • Aesthetic concerns due to the appearance of the hands or feet.
  • Functional limitations, particularly in fine motor skills.
  • Difficulty in wearing certain types of footwear if the toes are affected.

Diagnosis

Diagnosis of brachydactyly is primarily clinical, based on the physical examination of the hands and feet. X-ray imaging is used to assess the bone structure and confirm the diagnosis. Genetic testing can identify specific mutations responsible for the condition.

Management

There is no cure for brachydactyly, but management focuses on addressing any functional limitations. This may include:

  • Occupational therapy to improve hand function.
  • Custom footwear for comfort and function.
  • Surgical intervention in severe cases to improve function or appearance.

Prognosis

The prognosis for individuals with brachydactyly is generally good, as the condition does not typically affect overall health. However, the impact on hand or foot function can vary depending on the severity of the condition.

Epidemiology

Brachydactyly is a rare condition, with varying prevalence depending on the population studied. It is more commonly reported in certain isolated populations due to genetic factors.

See Also

References

  • Jones, K. L. (1997). Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company.
  • Online Mendelian Inheritance in Man (OMIM). "Brachydactyly". Retrieved from [1]

Template:Medical conditions of the musculoskeletal system

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