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extensor tendons of finger anomalies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

extensor tendons of finger anomalies

MONDO:0008540

Also known as:Hapnes-Boman-Skeie syndromeanomalous insertion of extensor tendons of fingerstendons, extensor, of fingers, anomalous insertion OF

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Overview

GeneticsAutosomal dominant

Clinical Trials1 registered

ResearchLimited published research (7 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: Xanthomatosis, Multiple lipomas, and Camptodactyly of finger; and common findings: Weak and brittle bones (osteoporosis), Limitation of joint mobility, and Skeletal muscle atrophy. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Weak and brittle bones (osteoporosis), Limitation of joint mobility, Skeletal muscle atrophy

Prognosis

Phenotype severity distribution: 3 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.

1 clinical trial registered. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for extensor tendons of finger anomalies. Research spans Case Report / Case Series (71%) and Review / Meta-Analysis (29%).

Recent Publications

Oni OA (2026). [PMID: 41945113](https://pubmed.ncbi.nlm.nih.gov/41945113/). *Surg Radiol Anat*. [Case Report / Case Series]
Sunhare N (2026). [PMID: 42256818](https://pubmed.ncbi.nlm.nih.gov/42256818/). *Cureus*. [Case Report / Case Series]
Hur MS (2026). [PMID: 41594251](https://pubmed.ncbi.nlm.nih.gov/41594251/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]
Drummond D (2025). [PMID: 41064894](https://pubmed.ncbi.nlm.nih.gov/41064894/). *Acta medica (Hradec Kralove)*. [Review / Meta-Analysis]
Takagi T (2024). [PMID: 39544035](https://pubmed.ncbi.nlm.nih.gov/39544035/). *The journal of hand surgery Asian-Pacific volume*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:187390

Orphanet

European rare disease database

Orphanet:3294

GARD

Genetic and Rare Diseases Info Center

GARD:2597

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
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extensor tendons of finger anomalies

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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