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rhizomelic chondrodysplasia punctata type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rhizomelic chondrodysplasia punctata type 5

MONDO:0014743

Also known as:PEX5 rhizomelic chondrodysplasia punctataRCDP5rhizomelic chondrodysplasia punctata caused by mutation in PEX5

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Overview

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.

GeneticsAutosomal recessive · PEX5 (chr 12)

Clinical Trials1 registered · 1 recruiting

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 always present findings: Short stature, Seizure, Severe intellectual disability, and Developmental cataract and others; and common findings: Short humerus, Coxa vara, Hyporeflexia, and Skeletal muscle atrophy and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Severe intellectual disability, Convulsive status epilepticus

Genetic Landscape

PEX5 function has not been fully characterized.

Rhizomelic chondrodysplasia punctata type 5 is associated with mutations in the PEX5 gene on chromosome 12.

Diagnosis

Genetic testing for PEX5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 5 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, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

7 publications have been identified in PubMed for rhizomelic chondrodysplasia punctata type 5. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

A R (2026). [PMID: 42173544](https://pubmed.ncbi.nlm.nih.gov/42173544/). *BMJ Case Rep*. [Case Report / Case Series]
Smith T (2025). [PMID: 40083139](https://pubmed.ncbi.nlm.nih.gov/40083139/). *Clin Transl Sci*. [Clinical Trial Publication]
Sankhe R (2025). [PMID: 41594547](https://pubmed.ncbi.nlm.nih.gov/41594547/). *Biomolecules*. [Basic Science / Preclinical]
Boulling A (2025). [PMID: 40394457](https://pubmed.ncbi.nlm.nih.gov/40394457/). *Genet Sel Evol*. [Basic Science / Preclinical]
Khalilian S (2025). [PMID: 40205409](https://pubmed.ncbi.nlm.nih.gov/40205409/). *BMC Med Genomics*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616716

Orphanet

European rare disease database

Orphanet:468717

GARD

Genetic and Rare Diseases Info Center

GARD:13320

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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rhizomelic chondrodysplasia punctata type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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