FB0122_29yo female with bilateral hearing loss, open anterior fontanel with widened metopic sutures which required surgical repair_Candidate Gene: HECTD4

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. Ophir Klein of UCSF Benioff Children's Hospital. Phenotype -Previous dx of Conradi-Huenermann syndrome - recent genetic testing and biochemical testing was normal - Frontonasal dysplasia, frontal alopecia, orbital hypertelorism - Open anterior fontanel with widened metopic sutures which required surgical repair - Pectus excavatum - Bilateral hearing loss due to fusion of bones