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aniridia-renal agenesis-psychomotor retardation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia-renal agenesis-psychomotor retardation syndrome

MONDO:0008796

Also known as:Sommer-Rathbun-Battles syndromeaniridia partial with unilateral renal agenesis and psychomotor retardationaniridia renal agenesis psychomotor retardation

Find Clinical TrialsTrials

Overview

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

GeneticsAutosomal recessive

Clinical Trials1 registered · 1 recruiting

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: Unilateral renal agenesis, Telecanthus, Developmental glaucoma, and Aniridia and 2 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Unilateral renal agenesis
Eyes

Diagnosis

Biomarker and diagnostic research for aniridia-renal agenesis-psychomotor retardation syndrome 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

302 publications have been identified in PubMed for aniridia-renal agenesis-psychomotor retardation syndrome. Kisho has analyzed 187 by research type. Research spans Review / Meta-Analysis (34%), Case Report / Case Series (28%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Research summaries	64

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:206750

Orphanet

European rare disease database

Orphanet:1064

GARD

Genetic and Rare Diseases Info Center

GARD:690

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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Kisho

aniridia-renal agenesis-psychomotor retardation syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

aniridia-renal agenesis-psychomotor retardation syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications