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multiple synostoses syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple synostoses syndrome

MONDO:0017923

Also known as:WL syndromedeafness-Hermann type symphalangism syndromefacio-audio-symphalangism

Overview

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

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: Conductive hearing impairment, Brachydactyly, Joint stiffness, and Short palm and others; and common findings: Bilateral single transverse palmar creases, Cone-shaped epiphysis, and Broad thumb. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Conductive hearing impairment

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 very common features, 3 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 multiple synostoses syndrome.

53 publications have been identified in PubMed for multiple synostoses syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	17	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3237

GARD

Genetic and Rare Diseases Info Center

GARD:3836

Questions for Your Care Team

→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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multiple synostoses syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

multiple synostoses syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications