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Type A2 brachydactyly(BDA2)

MedGen UID:
318690
Concept ID:
C1832702
Congenital Abnormality
Synonyms: BDA2; Brachydactyly, type 2a; BRACHYMESOPHALANGY II; Brachymesophalangy type 2; Mohr-Wriedt type brachydactyly
SNOMED CT: Brachydactyly type A2 (720569006); Brachydactyly Mohr Wriedt type (720569006)
 
Genes (locations): 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).
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.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Radial deviation of the 2nd finger
MedGen UID:
335012
Concept ID:
C1844709
Finding
Displacement of the 2nd finger towards the radial side.
Ulnar deviation of the 2nd finger
MedGen UID:
336806
Concept ID:
C1844891
Finding
Displacement of the 2nd (index) finger towards the ulnar side.
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).
Short 2nd finger
MedGen UID:
396302
Concept ID:
C1862142
Finding
Hypoplasia of the second finger, also known as the index finger.
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
MedGen UID:
396303
Concept ID:
C1862144
Finding
Medially deviated second toe
MedGen UID:
350602
Concept ID:
C1862147
Finding
Medial deviation of the second toe.
Short hallux
MedGen UID:
400890
Concept ID:
C1865992
Finding
Underdevelopment (hypoplasia) of the big toe.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
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.
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.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.

Term Hierarchy

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

Recent clinical studies

Etiology

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: 33486847Free PMC Article
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

Diagnosis

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: 38879467Free PMC Article
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

Prognosis

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: 38879467Free PMC Article
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: 24129431Free PMC Article
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: 16014698Free PMC Article

Clinical prediction guides

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: 24710560Free PMC Article
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: 24129431Free PMC Article
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
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
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: 16014698Free PMC Article

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