congenital vertical talus

Term ID

DOID:0111568

Synonyms

• congenital convex foot
• congenital convex pes valgus
• congenital rocker-bottom foot
• CVT
• rocker-bottom foot deformity

Definition

A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/15368082

References

• GARD:5488
• MEDDRA:10066242
• MESH:D005413
• OMIM:192950
• ORDO:178382
• SNOMEDCT_US_2023_03_01:205359003
• UMLS_CUI:C0240912

Ontology

Human Disease   ( DOID:0111568 )