短指
- 関
- brachydactyly
WordNet
- abnormal shortness of fingers and toes (同)brachydactylia
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/02 17:55:15」(JST)
[Wiki en表示]
|
|
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
|
|
This article relies largely or entirely upon a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources. (June 2011) |
(Learn how and when to remove this template message) |
| 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 |
|
[edit on Wikidata]
|
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).
Contents
- 1 Types
- 2 Other syndromes
- 3 See also
- 4 References
- 5 External links
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.
See also
References
- ^ Meiselman SA, Berkenstadt M, Ben-Ami T, Goodman RM (1989). "Brachydactyly type A-7 (Smorgasbord): a new entity". Clin. Genet. 35 (4): 261–7. doi:10.1111/j.1399-0004.1989.tb02940.x. PMID 2714013.
- ^ "Clubbing of the Nails: Background, Pathophysiology, Epidemiology".
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
|
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
|
|
Appendicular
limb / dysmelia |
| Arms |
| clavicle / shoulder: |
- Cleidocranial dysostosis
- Sprengel's deformity
- Wallis–Zieff–Goldblatt syndrome
|
|
| hand deformity: |
- Madelung's deformity
- Clinodactyly
- Oligodactyly
- Polydactyly
|
|
|
| Leg |
| hip: |
- Dislocation of hip / Hip dysplasia
- Upington disease
- Coxa valga
- Coxa vara
|
|
| knee: |
- Genu valgum
- Genu varum
- Genu recurvatum
- Discoid meniscus
- Congenital patellar dislocation
- Congenital knee dislocation
|
|
| foot deformity: |
- varus
- valgus
- Pes cavus
- Rocker bottom foot
- Hammer toe
|
|
|
| Either / both |
| fingers and toes |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani–Lenz syndactylism
- Ectrodactyly
- Brachydactyly
|
|
| reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
|
|
| multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
|
|
|
|
| Axial |
| Skull and face |
| Craniosynostosis: |
- Scaphocephaly
- Oxycephaly
- Trigonocephaly
|
|
| Craniofacial dysostosis: |
- Crouzon syndrome
- Hypertelorism
- Hallermann–Streiff syndrome
- Treacher Collins syndrome
|
|
| other: |
- Macrocephaly
- Platybasia
- Craniodiaphyseal dysplasia
- Dolichocephaly
- Greig cephalopolysyndactyly syndrome
- Plagiocephaly
- Saddle nose
|
|
|
| Vertebral column |
- spinal curvature
- Klippel–Feil syndrome
- Spondylolisthesis
- Spina bifida occulta
- Sacralization
|
|
| Thoracic skeleton |
| ribs: |
|
|
| sternum: |
- Pectus excavatum
- Pectus carinatum
|
|
|
English Journal
- Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
- Xu M1, Xie YA2, Abouzeid H3, Gordon CT4, Fiorentino A5, Sun Z6, Lehman A7, Osman IS8, Dharmat R1, Riveiro-Alvarez R9, Bapst-Wicht L3, Babino D10, Arno G11, Busetto V12, Zhao L13, Li H6, Lopez-Martinez MA9, Azevedo LF3, Hubert L14, Pontikos N15, Eblimit A1, Lorda-Sanchez I9, Kheir V3, Plagnol V16, Oufadem M4, Soens ZT1, Yang L6, Bole-Feysot C17, Pfundt R18, Allaman-Pillet N3, Nitschké P19, Cheetham ME5, Lyonnet S20, Agrawal SA1, Li H6, Pinton G3, Michaelides M11, Besmond C14, Li Y1, Yuan Z6, von Lintig J10, Webster AR11, Le Hir H21, Stoilov P22; UK Inherited Retinal Dystrophy Consortium, Amiel J20, Hardcastle AJ5, Ayuso C9, Sui R6, Chen R23, Allikmets R24, Schorderet DF25.
- American journal of human genetics.Am J Hum Genet.2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.
- PMID 28285769
- Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.
- Page MM1,2, Hooper AJ1,2,3, Glendenning P1,2, Burnett JR4,2.
- BMJ case reports.BMJ Case Rep.2017 Apr 6;2017. pii: bcr-2016-218825. doi: 10.1136/bcr-2016-218825.
- PMID 28385908
- [Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
- Travieso-Suárez L1, Pereda A2, Pozo-Román J3, Pérez de Nanclares G2, Argente J4.
- Anales de pediatria (Barcelona, Spain : 2003).An Pediatr (Barc).2017 Apr 5. pii: S1695-4033(17)30079-6. doi: 10.1016/j.anpedi.2017.03.001. [Epub ahead of print]
- PMID 28391997
Japanese Journal
- Severe Hypokalemic Paralysis as a Manifestation of a Mitochondrial Disorder
- Finsterer Josef,Lässer Stefan
- The Tohoku Journal of Experimental Medicine 231(1), 9-12, 2013
- … He presented with myopathic face, bilateral ptosis, hypertelorism, brachydactylia, weakness of the axial and limb muscles, and bilateral leg edema. … Hypertelorism and brachydactylia are known as physical traits of MtD. …
- NAID 130004460082
- Brachydactylia Associated with Mitochondrial Disorder in an Octogenarian
- Finsterer Josef
- The Kobe journal of the medical sciences 56(6), 239-241, 2010
- … Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been reported in association with mitochondrial disease before. … Whether the relation between brachydactylia and mitochondrial disease was causal or coincidental remains speculative. …
- NAID 110009587674
- 倉 秀治
- 日本足の外科学会雑誌 = The journal of the Japanese Society for Surgery of the Foot 27(2), 106-111, 2006-05-31
- NAID 10018754067
Related Links
- Brachydactylia definition, abnormal shortness of the fingers and toes. See more. Thesaurus Translate Puzzles & Games Reference Word of the Day Blog Slideshows Apps by Dictionary My Account Log Out Log In Dictionary ...
- Translations of brachydactylia. brachydactylia synonyms, brachydactylia antonyms. Information about brachydactylia in the free online English dictionary and encyclopedia. brachydactylia - definition of brachydactylia by The Free ...
★リンクテーブル★
[★]
- 英
- brachydactyly、brachydactylia
- 関
- 短指症