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pelvis-shoulder dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pelvis-shoulder dysplasia

MONDO:0008217

Also known as:Kosenow syndromeScapuloiliac dysostosis

Overview

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.

GeneticsAutosomal dominant

ResearchLimited published research (2 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 very common findings: Multiple skeletal anomalies; and common findings: Ambiguous genitalia, Hydronephrosis, Microglossia, and Cleft palate and others. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Excessive inward curve of the lower back (lumbar hyperlordosis), Multiple skeletal anomalies, Hypoplastic pubic bone

Prognosis

Phenotype severity distribution: 1 very common feature, 37 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 pelvis-shoulder dysplasia.

2 publications have been identified in PubMed for pelvis-shoulder dysplasia. Research spans Case Report / Case Series (100%).

Recent Publications

Ichikawa J (2025). [PMID: 40558581](https://pubmed.ncbi.nlm.nih.gov/40558581/). *Diseases*. [Case Report / Case Series]
Sable A (2024). [PMID: 39253674](https://pubmed.ncbi.nlm.nih.gov/39253674/). *J Orthop Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:169550

Orphanet

European rare disease database

Orphanet:2839

GARD

Genetic and Rare Diseases Info Center

GARD:16611

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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pelvis-shoulder dysplasia

Overview

Clinical Presentation

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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