Brachydactyly type A2

MedGen UID:: 964882
•Concept ID:: CN280382
•: Disease or Syndrome

Synonym:	Brachydactyly, Mohr-Wriedt type
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Orphanet:	ORPHA93396

Definition

A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBrachydactyly type A2

Dysostosis with brachydactyly without extraskeletal manifestations
- Brachydactyly type A2

Recent clinical studies

Etiology

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.

Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A
Mol Genet Genomic Med 2021 Mar;9(3):e1594. Epub 2021 Jan 24 doi: 10.1002/mgg3.1594. PMID: 33486847 Free PMC Article

Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.

Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P
Genes Cells 2004 Dec;9(12):1227-38. doi: 10.1111/j.1365-2443.2004.00799.x. PMID: 15569154

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Diagnosis

PBL teaching design of medical genetics with the case of brachydactyly type A2.

Ma J, Huang LJ, Zhang QX, Zhu Y, Qian L
Yi Chuan 2023 Feb 20;45(2):176-183. doi: 10.16288/j.yczz.22-332. PMID: 36927664

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Prognosis

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P
Eur J Hum Genet 2014 Jun;22(6):726-33. Epub 2013 Oct 16 doi: 10.1038/ejhg.2013.222. PMID: 24129431 Free PMC Article

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S
J Med Genet 2006 Mar;43(3):225-31. Epub 2005 Jul 13 doi: 10.1136/jmg.2005.034058. PMID: 16014698 Free PMC Article

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Clinical prediction guides

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).

Liu X, Gao L, Zhao A, Zhang R, Ji B, Wang L, Zheng Y, Zeng B, Valenzuela RK, He L, Ma J
PLoS One 2014;9(4):e94201. Epub 2014 Apr 7 doi: 10.1371/journal.pone.0094201. PMID: 24710560 Free PMC Article

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

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

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S
Hum Mol Genet 2008 May 1;17(9):1222-33. Epub 2008 Jan 18 doi: 10.1093/hmg/ddn012. PMID: 18203755

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S
J Med Genet 2006 Mar;43(3):225-31. Epub 2005 Jul 13 doi: 10.1136/jmg.2005.034058. PMID: 16014698 Free PMC Article

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Brachydactyly type A2

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

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