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Brachydactyly type A3(BDA3)

MedGen UID:
354670
Concept ID:
C1862140
Congenital Abnormality
Synonyms: BDA3; Brachydactyly-clinodactyly; Brachymesophalangy 5; BRACHYMESOPHALANGY V
SNOMED CT: Brachydactyly type A3 (890438002)
 
Monarch Initiative: MONDO:0007217
OMIM®: 112700
Orphanet: ORPHA93393

Definition

A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Clinical features

From HPO
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
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).
Rhomboid or triangular shaped 5th finger middle phalanx
MedGen UID:
867256
Concept ID:
C4021616
Anatomical Abnormality
Rhomboid or triangular shaped 5th (little) finger middle phalanx.
Type A brachydactyly
MedGen UID:
869982
Concept ID:
C4024413
Anatomical Abnormality
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

Recent clinical studies

Etiology

Wu H, Li Y, Li H
Front Endocrinol (Lausanne) 2022;13:824315. Epub 2022 Feb 3 doi: 10.3389/fendo.2022.824315. PMID: 35185800Free PMC Article
Williams KD, Nahhas RW, Cottom CR, Lawrence S, Subedi J, Jha B, Czerwinski SA, Blangero J, Williams-Blangero S, Towne B
Am J Hum Biol 2012 Jan-Feb;24(1):68-73. Epub 2011 Dec 1 doi: 10.1002/ajhb.22205. PMID: 22131202Free PMC Article
Williams KD, Blangero J, Cottom CR, Lawrence S, Choh AC, Czerwinski SA, Lee M, Duren DL, Sherwood RJ, Dyer TD, Jha B, Subedi J, Williams-Blangero S, Towne B
Hum Biol 2007 Dec;79(6):609-22. doi: 10.1353/hub.2008.0016. PMID: 18494372

Diagnosis

Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M
Am J Med Genet A 2020 Oct;182(10):2432-2436. Epub 2020 Aug 13 doi: 10.1002/ajmg.a.61788. PMID: 32789964

Clinical prediction guides

Wu H, Li Y, Li H
Front Endocrinol (Lausanne) 2022;13:824315. Epub 2022 Feb 3 doi: 10.3389/fendo.2022.824315. PMID: 35185800Free PMC Article
Williams KD, Blangero J, Cottom CR, Lawrence S, Choh AC, Czerwinski SA, Lee M, Duren DL, Sherwood RJ, Dyer TD, Jha B, Subedi J, Williams-Blangero S, Towne B
Hum Biol 2007 Dec;79(6):609-22. doi: 10.1353/hub.2008.0016. PMID: 18494372

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