Vertical talus, congenital

Preferred Label : Vertical talus, congenital;

Symbol : CVT;

CISMeF acronym : CVT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pes valgus, congenital convex; Rocker-bottom foot;

Description : Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a 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. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The foot deformity in Charcot-Marie-Tooth disease (see 118220) typically develops a high-arched 'claw foot' appearance later in life (summary by Levinsohn et al., 2004).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox D10 gene (HOXD10, 142984.0001);

Prefixed ID : #192950;

Details

Origin ID

192950;

UMLS CUI

C0240912;

Automatic exact mappings (from CISMeF team)
- Congenital vertical talus [ICD-11 Subcategory]
- Congenital vertical talus (disorder) [SNOMED CT concept]
- Rocker bottom foot [HPO term]
- congenital vertical talus [DO Concept]
- flatfoot [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital convex pes valgus (disorder) [Inactive SNOMED CT concept]
- Congenital vertical talus [HPO term]
- Congenital vertical talus [ORDO Disease]
DO Cross reference
- congenital vertical talus [DO Concept]
Genes related to phenotype
- Homeobox d10 [OMIM gene]
HPO term(s)
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calcaneovalgus deformity [HPO term]
- Congenital vertical talus [HPO term]
- Equinus calcaneus [HPO term]
- Rocker bottom foot [HPO term]
- Valgus position of the calcaneus [HPO term]
ORDO concept(s)
- Congenital vertical talus [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital convex pes valgus (disorder) [Inactive SNOMED CT concept]
- Congenital vertical talus [HPO term]
- Congenital vertical talus [ORDO Disease]
- Congenital vertical talus (disorder) [SNOMED CT concept]
- Congenital vertical talus, bilateral [ORDO Disease]
- Rocker bottom foot [HPO term]
- Vertical talus [MedDRA Preferred Term]
- congenital vertical talus [DO Concept]

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