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aniridia-ptosis-intellectual disability-familial obesity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aniridia-ptosis-intellectual disability-familial obesity syndrome

MONDO:0015198

Also known as:aniridia - ptosis - intellectual disability - familial obesity

Find Clinical TrialsTrials

Overview

Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for aniridia-ptosis-intellectual disability-familial obesity 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.

200 publications have been identified in PubMed for aniridia-ptosis-intellectual disability-familial obesity syndrome. Kisho has analyzed 137 by research type. Research spans Review / Meta-Analysis (47%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	64

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1067

GARD

Genetic and Rare Diseases Info Center

GARD:689

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-ptosis-intellectual disability-familial obesity syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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