Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

polyneuropathy-hand defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyneuropathy-hand defect syndrome

MONDO:0008809

Also known as:Hamanishi Ueba Tsuji syndromeaplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathyaplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy

Overview

Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.

GeneticsAutosomal recessive

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: Abnormality of the musculature, Polyneuropathy, and Decreased sweating (hypohidrosis).

Organ System	Phenotype Count	Example Features
Muscles	1	Abnormality of the musculature
Brain and nerves

Diagnosis

Biomarker and diagnostic research for polyneuropathy-hand defect syndrome has been reported in the published literature.

Prognosis

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 polyneuropathy-hand defect syndrome.

282 publications have been identified in PubMed for polyneuropathy-hand defect syndrome. Kisho has analyzed 71 by research type. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (23%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	43	61%

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:207740

Orphanet

European rare disease database

Orphanet:2926

GARD

Genetic and Rare Diseases Info Center

GARD:2589

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

polyneuropathy-hand defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

polyneuropathy-hand defect syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications