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.

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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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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.

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Type A brachydactyly

MedGen UID:: 869982
•Concept ID:: C4024413
•: Anatomical Abnormality

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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.

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Abnormality of limbs
Abnormality of the musculoskeletal system
- Cone-shaped epiphysis

Recent clinical studies

Etiology

Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy.

Wu H, Li Y, Li H
Front Endocrinol (Lausanne) 2022;13:824315. Epub 2022 Feb 3 doi: 10.3389/fendo.2022.824315. PMID: 35185800 Free PMC Article

Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children.

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: 22131202 Free PMC Article

Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal.

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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Diagnosis

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.

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

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