Cytoscape Web
Click node...

Coxo-podo-patellar syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
6 signs/symptoms
Disease Type of connection
17q23.1q23.2 microdeletion syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Heritable pulmonary arterial hypertension
Synonym(s):
- Ischiopatellar dysplasia
- SPS
- Scott-Taor syndrome
- Small patella syndrome
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: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBX4 P57082601719
Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Knee anomalies (excluding patella)
- Patella absent / abnormal (excluding luxation)

Frequent
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality