U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Type A5 brachydactyly

MedGen UID:
929661
•Concept ID:
C4303992
•
Congenital Abnormality
Synonyms: Brachydactyly type A5 nail dysplasia; Brachydactyly with absence of middle phalanges and hypoplastic nails
SNOMED CT: Brachydactyly type A5 (720570007)
 
HPO: HP:0031044
Monarch Initiative: MONDO:0019678

Definition

A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVType A5 brachydactyly

Recent clinical studies

Etiology

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G
Am J Med Genet A 2016 May;170A(5):1202-7. Epub 2016 Jan 29 doi: 10.1002/ajmg.a.37560. PMID: 26822876
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO
Am J Hum Genet 2003 Apr;72(4):984-97. Epub 2003 Mar 14 doi: 10.1086/374721. PMID: 12649808Free PMC Article

Diagnosis

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K
J Hum Genet 2018 Sep;63(9):1003-1007. Epub 2018 Jun 8 doi: 10.1038/s10038-018-0473-4. PMID: 29884795
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A
Am J Med Genet A 2016 Sep;170(9):2462-5. Epub 2016 Jul 6 doi: 10.1002/ajmg.a.37839. PMID: 27380734
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.
Iijima T, Hoshino J, Mise K, Sumida K, Suwabe T, Hayami N, Ueno T, Takaichi K, Fujii T, Ohashi K, Morisada N, Iijima K, Ubara Y
Hum Pathol 2016 Sep;55:24-9. Epub 2016 Apr 27 doi: 10.1016/j.humpath.2016.04.005. PMID: 27131853

Prognosis

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S
Am J Hum Genet 2000 Oct;67(4):822-31. Epub 2000 Sep 12 doi: 10.1086/303084. PMID: 10986040Free PMC Article

Clinical prediction guides

A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.
Su P, Ding H, Huang D, Zhou Y, Huang W, Zhong L, Vyse TJ, Wang Y
J Med Genet 2011 May;48(5):312-6. Epub 2011 Feb 26 doi: 10.1136/jmg.2010.084814. PMID: 21357617
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S
Am J Hum Genet 2000 Oct;67(4):822-31. Epub 2000 Sep 12 doi: 10.1086/303084. PMID: 10986040Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...