RECRUITING

CDH1-associated Blepharocheilodontic Syndrome Registry

Description

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.

Conditions

Blepharocheilodontic Syndrome
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Related Conditions:

Blepharocheilodontic Syndrome

Study Overview

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Study Details

Study overview

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.

CDH1-associated Blepharocheilodontic Syndrome Registry

CDH1-associated Blepharocheilodontic Syndrome Registry

Condition
Blepharocheilodontic Syndrome
Intervention / Treatment

-

Contacts and Locations

Columbus

The Ohio State University, Columbus, Ohio, United States, 43221

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Ohio State University,

Maegan E Roberts, MS, PRINCIPAL_INVESTIGATOR, Ohio State University

Study Record Dates

2040-01