Congenital vertical talus

General Information (adopted from Orphanet):

Synonyms, Signs: ROCKER-BOTTOM FOOT
PES VALGUS, CONGENITAL CONVEX CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, INCLUDED
CVT
Congenital convex foot
Congenital rocker-bottom foot
Congenital convex pes valgus
Number of Symptoms 15
OrphanetNr: 178382
OMIM Id: 192950
ICD-10: Q66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital deformities of limbs
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001369) Arthritis 44 / 7739
2
 (HPO:0001838) Rocker bottom foot 85 / 7739
3
 (HPO:0001848) Calcaneovalgus deformity 12 / 7739
4
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
5
 (HPO:0008138) Equinus calcaneus 1 / 7739
6
 (OMIM) Contracture of the soft tissues of the hind- and mid-foot 1 / 7739
7
 (OMIM) Covexity of the sole of the foot 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Metatarsal abduction 1 / 7739
10
 (OMIM) Loss of plantar arch 1 / 7739
11
 (OMIM) Distal aspect of the talus is projected plantarly 1 / 7739
12
 (OMIM) A subset of patients may develop cavo-varus deformity in adolescence 1 / 7739
13
 (OMIM) Congenital vertical talus, bilateral 1 / 7739
14
 (OMIM) Vertical orientation of the talus with rigid dorsal dislocation of the navicular bone 1 / 7739
15
 (OMIM) Cuboid may be subluxed dorsally 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Molecular genetics OMIM In a family of Italian extraction in which CVT and CMT-like foot deformities showed linkage to chromosome 2q31, Shrimpton et al. (2004) performed candidate-gene sequencing of 6 HOX genes and detected a heterozygous missense mutation in the HOXD10 ...