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pelviscapular dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pelviscapular dysplasia

MONDO:0009845

Also known as:Cousin syndromefamilial pelvis-scapular dysplasiacraniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature

Overview

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

GeneticsAutosomal recessive · TBX15 (chr 1)

OnsetCHILDHOOD

ResearchLimited published research (3 articles)

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: Hypoplastic scapulae, Hearing loss (hearing impairment), Hypertelorism, and Posteriorly rotated ears and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Absent proximal finger flexion creases, 4-5 toe syndactyly, 2-3 toe syndactyly

Genetic Landscape

TBX15 function has not been fully characterized.

Pelviscapular dysplasia is associated with mutations in the TBX15 gene on chromosome 1.

Diagnosis

Genetic testing for TBX15 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present 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 pelviscapular dysplasia.

3 publications have been identified in PubMed for pelviscapular dysplasia. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Bhate M (2025). [PMID: 40972941](https://pubmed.ncbi.nlm.nih.gov/40972941/). *J AAPOS*. [Case Report / Case Series]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clin Genet*. [Review / Meta-Analysis]
Detiger SEL (2025). [PMID: 40693652](https://pubmed.ncbi.nlm.nih.gov/40693652/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:260660

Orphanet

European rare disease database

Orphanet:93333

GARD

Genetic and Rare Diseases Info Center

GARD:1555

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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pelviscapular dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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