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spondyloepimetaphyseal dysplasia, Isidor-Toutain type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spondyloepimetaphyseal dysplasia, Isidor-Toutain type

MONDO:0032885

Also known as:SEMDIST

Overview

GeneticsAutosomal dominant · RPL13 (chr 16)

OnsetINFANTILE

ResearchLimited published research (1 article)

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: Severe short stature, Short long bone, Genu varum, and Platyspondyly and others; and sometimes findings: Sideways curvature of the spine (scoliosis). 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Short long bone, Sideways curvature of the spine (scoliosis), Irregular femoral epiphysis

Genetic Landscape

RPL13 function has not been fully characterized.

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type is associated with mutations in the RPL13 gene on chromosome 16.

Diagnosis

Genetic testing for RPL13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 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 spondyloepimetaphyseal dysplasia, Isidor-Toutain type.

1 publication has been identified in PubMed for spondyloepimetaphyseal dysplasia, Isidor-Toutain type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Gorodilova D (2025). [PMID: 40725227](https://pubmed.ncbi.nlm.nih.gov/40725227/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618728

Questions for Your Care Team

→Should I pursue genetic testing for RPL13, and what would the results mean for my family?
→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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spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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