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arthrogryposis-hyperkeratosis syndrome, lethal form - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis-hyperkeratosis syndrome, lethal form

MONDO:0008826

Also known as:Johnston-Aarons-Schelley syndromeJoint contractures, hyperkeratosis, and severe hypoplasia of the posterior columnsarthrogryposis with hyperkeratosis

Overview

Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.

Clinical Presentation

Features include: Joint stiffness present at birth (arthrogryposis multiplex congenita).

Organ System	Phenotype Count	Example Features
Muscles	1	Joint stiffness present at birth (arthrogryposis multiplex congenita)

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Diagnosis

Biomarker and diagnostic research for arthrogryposis-hyperkeratosis syndrome, lethal form 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 arthrogryposis-hyperkeratosis syndrome, lethal form.

182 publications have been identified in PubMed for arthrogryposis-hyperkeratosis syndrome, lethal form. Research spans Review / Meta-Analysis (39%), Case Report / Case Series (29%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Research summaries	64	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208158

Orphanet

European rare disease database

Orphanet:1485

GARD

Genetic and Rare Diseases Info Center

GARD:3053

Questions for Your Care Team

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arthrogryposis-hyperkeratosis syndrome, lethal form

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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