KEGG DISEASE: Congenital vertical talus

DISEASE: Congenital vertical talus

Entry

H00929                      Disease

Name

Congenital vertical talus

Description

Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB98  Congenital deformities of feet
     H00929  Congenital vertical talus

Gene

HOXD10 [HSA:3236] [KO:K09295]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20645034

Authors

Merrill LJ, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB

Title

Skeletal muscle abnormalities and genetic factors related to vertical talus.

Journal

Clin Orthop Relat Res 469:1167-74 (2011)
DOI:10.1007/s11999-010-1475-5

Reference

PMID:15368082

Authors

Levinsohn EM, Shrimpton AE, Cady RB, Packard DS, Hootnick DR

Title

Congenital vertical talus in four generations of the same family.

Journal

Skeletal Radiol 33:649-54 (2004)
DOI:10.1007/s00256-004-0851-1

Reference

PMID:15146389

Authors

Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR

Title

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Journal

Am J Hum Genet 75:92-6 (2004)
DOI:10.1086/422015

Reference

PMID:16450407

Authors

Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AM

Title

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

Journal

J Orthop Res 24:448-53 (2006)
DOI:10.1002/jor.20052

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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