KEGG   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 [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00929  Congenital vertical talus
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: LB98.4
ICD-10: Q66.8
MeSH: C536345
OMIM: 192950
Reference
  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
  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
  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
  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
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