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Type A2 brachydactyly(BDA2)

MedGen UID:: 318690
•Concept ID:: C1832702
•: Congenital Abnormality

Synonyms:	BDA2; BRACHYMESOPHALANGY II; Brachymesophalangy type 2; Mohr-Wriedt type brachydactyly
SNOMED CT:	Brachydactyly type A2 (720569006); Brachydactyly Mohr Wriedt type (720569006)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	BMP2 (20p12.3); BMPR1B (4q22.3); GDF5 (20q11.22)

HPO:	HP:0009372
Monarch Initiative:	MONDO:0007216
OMIM®:	112600

Definition

Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011). [from OMIM]

Clinical features

From HPO

Hallux valgus

MedGen UID:: 5416
•Concept ID:: C0018536
•: Anatomical Abnormality

Lateral deviation of the great toe (i.e., in the direction of the little toe).

See: Feature record | Search on this feature

Aplasia/Hypoplasia of the middle phalanx of the 5th finger

MedGen UID:: 320253
•Concept ID:: C1834034
•: Finding

Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.

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Short middle phalanx of the 5th finger

MedGen UID:: 322335
•Concept ID:: C1834060
•: Anatomical Abnormality

Hypoplastic/small middle phalanx of the fifth finger.

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Radial deviation of the 2nd finger

MedGen UID:: 335012
•Concept ID:: C1844709
•: Finding

Displacement of the 2nd finger towards the radial side.

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Ulnar deviation of the 2nd finger

MedGen UID:: 336806
•Concept ID:: C1844891
•: Finding

Displacement of the 2nd (index) finger towards the ulnar side.

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Clinodactyly of the 5th finger

MedGen UID:: 340456
•Concept ID:: C1850049
•: Congenital Abnormality

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

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Short 2nd finger

MedGen UID:: 396302
•Concept ID:: C1862142
•: Finding

Hypoplasia of the second finger, also known as the index finger.

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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger

MedGen UID:: 396303
•Concept ID:: C1862144
•: Finding

See: Feature record | Search on this feature

Medially deviated second toe

MedGen UID:: 350602
•Concept ID:: C1862147
•: Finding

Medial deviation of the second toe.

See: Feature record | Search on this feature

Short hallux

MedGen UID:: 400890
•Concept ID:: C1865992
•: Finding

Underdevelopment (hypoplasia) of the big toe.

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Broad hallux

MedGen UID:: 401165
•Concept ID:: C1867131
•: Finding

Visible increase in width of the hallux without an increase in the dorso-ventral dimension.

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Triangular shaped middle phalanx of the 2nd finger

MedGen UID:: 869852
•Concept ID:: C4024283
•: Anatomical Abnormality

Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

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Triangular shaped middle phalanx of the 5th finger

MedGen UID:: 870121
•Concept ID:: C4024552
•: Anatomical Abnormality

Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.

See: Feature record | Search on this feature

2-3 toe syndactyly

MedGen UID:: 1645640
•Concept ID:: C4551570
•: Congenital Abnormality

Syndactyly with fusion of toes two and three.

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Abnormality of limbs

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVType A2 brachydactyly

Fetal anomaly
- Congenital Systemic Disorder
  - Congenital anomaly of musculoskeletal system
    - Congenital deformities of limbs
      - Brachydactyly
        Type A brachydactyly
        Type A2 brachydactyly

Follow this link to review classifications for Type A2 brachydactyly in Orphanet.

Conditions with this feature

Brachydactyly, type A2, with microcephaly

MedGen UID:: 395250
•Concept ID:: C1859393
•: Disease or Syndrome

See: Condition Record

Brachydactyly, type A2, with microcephaly

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

See all (2)

Diagnosis

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

Shirodkar D, Smithson SF, Keen R, Lester T, Banos-Pinero B, Burren CP
BMC Med Genomics 2024 Jun 15;17(1):160. doi: 10.1186/s12920-024-01931-6. PMID: 38879467 Free PMC Article

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

See all (2)

Prognosis

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

Shirodkar D, Smithson SF, Keen R, Lester T, Banos-Pinero B, Burren CP
BMC Med Genomics 2024 Jun 15;17(1):160. doi: 10.1186/s12920-024-01931-6. PMID: 38879467 Free PMC Article

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

See all (3)

Clinical prediction guides

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K
Birth Defects Res A Clin Mol Teratol 2015 Jun;103(6):567-72. Epub 2015 Mar 16 doi: 10.1002/bdra.23354. PMID: 25776145

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

See all (8)

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Type A2 brachydactyly(BDA2)

Definition

Clinical features

Term Hierarchy

Conditions with this feature

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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