Cytoscape Web
Click node...

Familial clubfoot due to 17q23.1q23.2 microduplication
1 OMIM reference -
1 associated gene
3 connected diseases
5 signs/symptoms
Disease Type of connection
17q23.1q23.2 microdeletion syndrome
Coxo-podo-patellar syndrome
Heritable pulmonary arterial hypertension
Synonym(s):
- Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBX4 P57082601719
Very frequent
- Talipes-varus / metatarsal varus
- Total / partial trisomy / duplication

Frequent
- Short stature / dwarfism / nanism

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Thin / hypoplastic toenails