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restrictive dermopathy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

restrictive dermopathy 1

MONDO:0800042

Also known as:restrictive dermopathyfetal hypokinesia sequence due to restrictive dermopathyfoetal hypokinesia sequence due to restrictive dermopathy

Overview

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

GeneticsAutosomal recessive · ZMPSTE24 (chr 1)

OnsetANTENATAL

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 always present findings: Narrow mouth, Sparse eyebrow, Hypertelorism, and Limb joint contracture and others. 53 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Overtubulated long bones, Kyphoscoliosis, Limb joint contracture

Genetic Landscape

ZMPSTE24 function has not been fully characterized.

Restrictive dermopathy 1 is associated with mutations in the ZMPSTE24 gene on chromosome 1.

Diagnosis

Genetic testing for ZMPSTE24 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 always present features.

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 restrictive dermopathy 1.

205 publications have been identified in PubMed for restrictive dermopathy 1. Kisho has analyzed 53 by research type. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (34%), and Clinical Trial Publication (9%).

Research Type	Count	% of Total
Research summaries	20	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275210

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?

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restrictive dermopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

restrictive dermopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications