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coxopodopatellar syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

coxopodopatellar syndrome

MONDO:0007841

Also known as:Scott-Taor syndromeischiocoxopodopatellar syndrome with or without pulmonary arterial hypertensionischiopatellar dysplasia

Overview

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.

GeneticsAutosomal dominant · TBX4 (chr 17)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Patellar hypoplasia; and very common findings: Abnormality of the knee, Abnormal epiphysis morphology, and Aplasia/Hypoplasia of the patella. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Short femur, Flat capital femoral epiphysis, Wide capital femoral epiphyses

Genetic Landscape

TBX4 function has not been fully characterized.

Coxopodopatellar syndrome is associated with mutations in the TBX4 gene on chromosome 17.

Diagnosis

Genetic testing for TBX4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for coxopodopatellar syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for coxopodopatellar syndrome.

135 publications have been identified in PubMed for coxopodopatellar syndrome. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	51	38%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:147891

Orphanet

European rare disease database

Orphanet:1509

GARD

Genetic and Rare Diseases Info Center

GARD:3030

Questions for Your Care Team

→Should I pursue genetic testing for TBX4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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coxopodopatellar syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

coxopodopatellar syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications