CDH1-associated Blepharocheilodontic Syndrome Registry
Recruiting
Observational Study
Blepharocheilodontic Syndrome
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- Ohio State University · Other
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About This Trial
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.
Trial Locations
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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)
Exclusi…
Contacts