FB0038_Blepharo-cheilo-dontic (BCD) syndrome aka Elschnig Syndrome_Trio Saliva_Candidate Gene: CDH1

The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the porband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children's Hospital Los Angeles. This trio consisted of treating the affected mother as the proband, and obtaining samples on the proband's affected daughter and the unaffected maternal grandmother. Phenotype: - bilateral cleft lip & palate - imperforate anus - low set ears - Distichiasis (Double row of lashes) - Ectropion lateral canthus - Downslanted palpebral fissures Candidate Gene: _CDH1_

本研究旨在收集、处理并分析已知或疑似遗传病患者及其家属的样本。本研究的总体目标是深入阐明疾病的遗传致病机制，以提升疾病的诊断、治疗乃至预防能力。我们的目标是为先证者（proband）所患的健康问题提供遗传学诊断，相关信息在适当时可用于指导患者的主治医生制定医疗决策。**本数据集属于受限访问人类样本数据**。如需获取该数据集的访问权限，您需先完成[此处概述的流程](/odocs/data-guidelines/)。本案例由洛杉矶儿童医院佩德罗·桑切斯（Pedro Sanchez）博士提交至FaceBase。本次研究的三人样本组以患病母亲作为先证者（proband），采集了该先证者的患病女儿以及未患病的外祖母的样本。表型：
- 双侧唇腭裂
- 肛门闭锁
- 低位耳
- 双行睫（Distichiasis）
- 外眦部睑外翻
- 睑裂下斜
候选基因：*CDH1*