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proximal symphalangism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal symphalangism

MONDO:0008511

Also known as:Cushing's symphalangismproximal symphalangism (disease)symphalangism, Cushing type

Overview

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

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: Synostosis of carpal bones, Tarsal synostosis, Proximal symphalangism, and Camptodactyly of finger; and common findings: Inner ear hearing loss (sensorineural hearing impairment), Brachydactyly, Elbow dislocation, and Elbow ankylosis and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Camptodactyly of finger, Finger clinodactyly, Clinodactyly of the 5th finger

Prognosis

Phenotype severity distribution: 4 very common features, 7 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 proximal symphalangism.

2 publications have been identified in PubMed for proximal symphalangism. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Zrno M (2025). [PMID: 41148756](https://pubmed.ncbi.nlm.nih.gov/41148756/). *Audiol Res*. [Case Report / Case Series]
Farhud DD (2024). [PMID: 39430143](https://pubmed.ncbi.nlm.nih.gov/39430143/). *Iran J Public Health*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3250

GARD

Genetic and Rare Diseases Info Center

GARD:8182

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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proximal symphalangism

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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