FB0021_14yo female with clinodactyly, camptodactyly of left index finger, delayed closure of the fontanel_Candiate Gene: DCHS1

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 proband 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. Joan Stoler of Boston Children's Hospital. Phenotype - dysmorphic facial features - clinodactyly - camptodactyly of left index finger

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，其核心目标为深入阐明疾病的遗传致病机制，以提升疾病诊断、治疗乃至预防的能力。我们的目标是为先证者（proband）所罹患的健康问题获取遗传学诊断，相关信息在适当时机可用于指导患者主治医生制定诊疗决策。本数据集属于受限访问人类遗传数据，若欲获取该数据的访问权限，您需首先遵循[此处概述的流程](/odocs/data-guidelines/)。本案例由波士顿儿童医院的琼·斯托勒（Joan Stoler）医生提交至FaceBase。表型：面部畸形特征、弯指畸形（clinodactyly）、左手食指屈曲指（camptodactyly）