coxopodopatellar syndrome
Findings
No curated finding names coxopodopatellar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Definition from the Mondo Disease Ontology (MONDO:0007841), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Patellar hypoplasiaHPOHP:0003065
- 15 of 15 reported patients
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the patellaHPOHP:0006498
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX4HGNC:11603
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: coxopodopatellar syndrome
- Also called
- ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertensionischiopatellar dysplasiaScott-Taor syndromesmall patella syndrome