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talo-patello-scaphoid osteolysis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

talo-patello-scaphoid osteolysis

MONDO:0012330

Also known as:singh-Williams-McAlister syndrometalo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals

Overview

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.

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: Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae, and Osteolysis of talus and others.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae

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Prognosis

Phenotype severity distribution: 6 very 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 talo-patello-scaphoid osteolysis.

100 publications have been identified in PubMed for talo-patello-scaphoid osteolysis. Kisho has analyzed 54 by research type. Research spans Review / Meta-Analysis (69%), Gene Therapy / Novel Therapeutics (15%), and Basic Science / Preclinical (7%).

Research Type	Count	% of Total
Research summaries	37	69%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609655

Orphanet

European rare disease database

Orphanet:50809

GARD

Genetic and Rare Diseases Info Center

GARD:10061

Questions for Your Care Team

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talo-patello-scaphoid osteolysis

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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