“Brachydactyly”的意思、由来-开放百科全书

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Brachydactyly

释义

Types
Other syndromes
See also
References
External links

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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.

Brachydactyly can also be a signal that one will be at risk for heart problems as they age.

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.

Types

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 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	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

In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down syndrome, Rubinstein-Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.

References

1. ^{{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=}}
2. ^{{Cite journal|title = Clubbing of the Nails: Background, Pathophysiology, Epidemiology|url = http://emedicine.medscape.com/article/1105946-overview}}

Type A2{{dead link|date=November 2016 |bot=InternetArchiveBot |fix-attempted=yes }}
{{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}}

1 : Congenital disorders of musculoskeletal system

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Types

Other syndromes

See also

References

External links