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arthrogryposis-like hand anomaly-sensorineural deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis-like hand anomaly-sensorineural deafness syndrome

MONDO:0007159

Also known as:distal arthrogryposis type 6DA6arthrogryposis and sensorineural deafness

Overview

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.

GeneticsAutosomal dominant

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: Arthrogryposis-like hand anomaly, Inner ear hearing loss (sensorineural hearing impairment), and Joint stiffness present at birth (arthrogryposis multiplex congenita).

Organ System	Phenotype Count	Example Features
Muscles	2	Arthrogryposis-like hand anomaly, Joint stiffness present at birth (arthrogryposis multiplex congenita)

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 arthrogryposis-like hand anomaly-sensorineural deafness syndrome.

11 publications have been identified in PubMed for arthrogryposis-like hand anomaly-sensorineural deafness syndrome. Research spans Case Report / Case Series (45%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108200

Orphanet

European rare disease database

Orphanet:1144

GARD

Genetic and Rare Diseases Info Center

GARD:784

Questions for Your Care Team

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arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Overview

Clinical Presentation

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

arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Overview

Clinical Presentation

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