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retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

MONDO:0014495

Also known as:retinal dystrophy-juvenile cataract-short stature syndromeRDJCSSretinal dystrophy, juvenile cataracts, and short stature syndrome

Overview

GeneticsAutosomal recessive · RDH11 (chr 14)

OnsetJUVENILE

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: Upslanted palpebral fissure, Bone spicule pigmentation of the retina, Nyctalopia, and Underdeveloped nasal alae and others; and common findings: Attached earlobe.

Organ System	Phenotype Count	Example Features
Eyes	4	Cataract, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy

Genetic Landscape

RDH11 function has not been fully characterized.

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome is associated with mutations in the RDH11 gene on chromosome 14.

Diagnosis

Genetic testing for RDH11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 14 always present features, 1 common feature.

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 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome.

1 publication has been identified in PubMed for retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616108

Orphanet

European rare disease database

Orphanet:436245

GARD

Genetic and Rare Diseases Info Center

GARD:17730

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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retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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