Targeted syndrome under study:
BCDS (OMIM: 119580 – 617681 / ORPHA :1997)
Abstract
Blepharocheilodontic syndrome (BCDS) is characterized by eyelid malformations, cleft lip with or without cleft palate (CLP), and dental anomalies. CLP is usually bilateral and eyelid malformations are typical (ectropion of the lower eyelids, euryblepharon, and lagophthalmia). Pathogenetic variants in CDH1 and CTNND1 have been found to cause the disease. Patients harbor variable expression of ectodermal dysplasia, with constant dental anomalies corresponding to conical teeth and tooth agenesis. Additional variable features have been reported (thyroid gland hypoplasia/aplasia, imperforate anus, neural tube defect). Significant interindividual and intrafamilial variability have been described. In two families, diffuse gastric cancer and lobular breast cancer have been reported.
The natural history of the disease is largely unknown, especially prenatal findings and postnatal management. To clarify the situation, we aim to collect patient clinical data focusing on prenatal features as well as postnatal follow-up.
Coordinating clinician
Jamal Ghoumid – jamal.ghoumid@chu-lille.fr
Institution
Clinical Genetcis Departement, Lille University Hospital
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No