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CDH1-associated Blepharocheilodontic Syndrome Registry
RecruitingObservational study
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * A documented pathogenic, likely pathogenic or a variant of uncertain significance in the CDH1 gene * Clinical features that are diagnostic for, or suggestive of, BCDS (cleft lip and/or palate, eyelid anomalies, dental abnormalities, webbed toes, imperforate anus, etc) Exclusion Criteria: • Non-English-speaking individuals
About the study
The aim of the CDH1-associated Blepharocheilodontic Syndrome (BCDS) registry is to better characterize the clinical features of this condition and exploring whether CDH1 variants linked to BCDS may also increase cancer risk.
Sponsor: Ohio State University · Participants: 100 · Started: Jun 17, 2025
Contact the study team
- Maegan E Roberts, MS · Phone: 614-814-1047
- Peter P Stanich, MD · Phone: 614-814-1047
Official record on ClinicalTrials.gov — NCT07133464
Locations in the U.S.
| Ohio | The Ohio State University, Columbus |
Conditions
From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.