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aniridia-absent patella syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia-absent patella syndrome

MONDO:0007120

Also known as:aniridia absent patellaaniridia and absent patellafamilial syndrome of aniridia and absence of the patella

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Overview

Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include: Cataract, Aplasia/Hypoplasia of the patella, Aniridia, and Glaucoma.

Organ System	Phenotype Count	Example Features
Eyes	2	Cataract, Glaucoma

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Diagnosis

Biomarker and diagnostic research for aniridia-absent patella 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.

137 publications have been identified in PubMed for aniridia-absent patella syndrome. Kisho has analyzed 95 by research type. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	26

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106220

Orphanet

European rare disease database

Orphanet:1069

GARD

Genetic and Rare Diseases Info Center

GARD:685

Questions for Your Care Team

→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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aniridia-absent patella syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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