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cataract-aberrant oral frenula-growth delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-aberrant oral frenula-growth delay syndrome

MONDO:0007277

Also known as:Wellesley-Carman-French syndromeWellesley Carmen French syndromecataract, aberrant oral frenula, and growth retardation

Overview

Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.

Patient Orgs1 organizations · ReNU Syndrome United

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.

No clinical trials have been registered for cataract-aberrant oral frenula-growth delay syndrome.

300 publications have been identified in PubMed for cataract-aberrant oral frenula-growth delay syndrome. Kisho has analyzed 13 by research type. Research spans Review / Meta-Analysis (46%), Other (23%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Research summaries	6	46%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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ReNU Syndrome UnitedPrimary Focus

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115645

Orphanet

European rare disease database

Orphanet:1373

GARD

Genetic and Rare Diseases Info Center

GARD:5554

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with ReNU Syndrome United and other patient organizations for support?

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cataract-aberrant oral frenula-growth delay syndrome

Overview

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications