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Brachydactyly type A4(BDA4)

MedGen UID:
354669
Concept ID:
C1862139
Congenital Abnormality
Synonym: TEMTAMY TYPE BRACHYDACTYLY
SNOMED CT: Brachydactyly type A4 (715721005); Brachydactyly Temtamy type (715721005)
 
HPO: HP:0031043
Monarch Initiative: MONDO:0007218
OMIM®: 112800

Definition

A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. [from HPO]

Clinical features

From HPO
Talipes calcaneovalgus
MedGen UID:
56270
Concept ID:
C0152237
Anatomical Abnormality
Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Short middle phalanx of the 2nd finger
MedGen UID:
867077
Concept ID:
C4021435
Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
Aplasia of the middle phalanges of the toes
MedGen UID:
867718
Concept ID:
C4022107
Finding
Type A brachydactyly
MedGen UID:
869982
Concept ID:
C4024413
Anatomical Abnormality
Congenital talipes calcaneovalgus
MedGen UID:
1631731
Concept ID:
C4551629
Congenital Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly type A4
Follow this link to review classifications for Brachydactyly type A4 in Orphanet.

Recent clinical studies

Clinical prediction guides

Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
Am J Hum Genet 2007 Feb;80(2):361-71. Epub 2007 Jan 3 doi: 10.1086/511387. PMID: 17236141Free PMC Article

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