brachydactyly

　

WordNet

1. abnormal shortness of fingers and toes (同)brachydactylia

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/04 04:59:51」(JST)

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Brachydactyly
Different forms of brachydactyly
Classification and external resources
Specialty	medical genetics
ICD-10	Q68.1
ICD-9-CM	755.2-755.4
DiseasesDB	29782
MeSH	D059327

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).

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.
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".
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.

See also

• Clubbed thumb

References

External links

• Type A2 (broken link)
• 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

UpToDate Contents

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• 1. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
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English Journal

• Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

• Stange K1, Ott CE2, Schmidt-von Kegler M3, Gillesen-Kaesbach G4, Mundlos S5, Dathe K6, Seemann P1.
• Journal of human genetics.J Hum Genet.2015 May 21. doi: 10.1038/jhg.2015.48. [Epub ahead of print]
• We report on a Brachydactyly Type C (BDC) patient with clinically inconspicuous parents. Molecular genetic analyses revealed compound heterozygosity for two GDF5 variants. The variant c.956G>T (p.Gly319Val) was inherited from her mother and has been reported in exome sequencing projects, whereas
• PMID 25994865

• A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.

• Bravo-Oro A1, Lurie IW2, Elizondo-Cárdenas G3, Peña-Zepeda C1, Salazar-Martínez A1, Correa-González C1, Castrillo JL4, Avila S4, Esmer C1.
• American journal of medical genetics. Part A.Am J Med Genet A.2015 May 18. doi: 10.1002/ajmg.a.36806. [Epub ahead of print]
• Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harb
• PMID 25988649

• Sfrp2 is a transcriptional target of SREBP-1 in mouse chondrogenic cells.

• Kim MJ1, Kim JE, Lee W, Park SY.
• Molecular and cellular biochemistry.Mol Cell Biochem.2015 May 14. [Epub ahead of print]
• Secreted frizzled-related protein 2 (Sfrp2) is highly expressed in developing limbs and is associated with skeletal malformation such as Brachydactyly and Syndactyly. However, the mechanism by which Sfrp2 gene was transcriptionally regulated in chondrogenic cells is largely unknown. Here, we found t
• PMID 25971371

Japanese Journal

• A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

• Lv Dan,Luo Yang,Yang Wei [他],CAO Lihua,WEN Yaran,ZHAO Xiuli,SUN Miao,LO Wilson H-Y,ZHANG Xue
• Journal of human genetics 54(7), 422-425, 2009-07-01
• NAID 10030731154

• Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese : brachydactyly type C and proximal symphalangism

• Yang Wei,Cao Lihua,Liu Wenli [他],JIANG Li,SUN Miao,ZHANG Dai,WANG Shusen,LO Wilson H. Y.,LUO Yang,ZHANG Xue
• Journal of human genetics 53(4), 368-374, 2008-04-01
• NAID 10021248706

• 斜指症・短指症 (特集 小児の上肢先天異常--その診断・治療)

• 川端 秀彦
• 整形・災害外科 51(2), 177-182, 2008-02
• NAID 40015865730

Related Links

• Brachydactyly - Experiences, Articles, Pictures, Collaboration ...

Up to date information about brachydactyly. Worldwide collaboration and exchange of experiences. This is the place to meet people with the same disorders and get direct answers. ... Many people have never heard of brachydactyly.

• Brachydactyly - National Center for Biotechnology Information

One of the most commonly used classifications of brachydactyly based on anatomic grounds was provided by Bell [6] and further elaborated by Temtamy & McKusick [1]. This system of classification has the advantage ...

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