Craniosynostoses and Craniofacial Conditions Discoveries in the Year of Discovery

September Discoveries – Craniosynostosis and Craniofacial Conditions

FDNA collaborated with the World Craniofacial Foundation, sponsored by Blueprint Genetics, to promote awareness of Craniosynostoses and other craniofacial conditions throughout the month of September.

About Craniofacial Conditions

One in every 10,000 children is born with a craniofacial malformation. When these conditions are classified as severe, survival often depends on one or more procedures, most of which are performed before the age of 8 months. The urgency for early interventions with craniofacial abnormalities suggests that early diagnosis can be extremely beneficial when considering the course of action. The sooner the condition is established, the sooner treatment can begin.

Tools for Success

Geneticists, Genetic Counselors, and other specialty clinicians often use several tests and evaluations to identify and gain a greater understanding of the individual’s specific syndrome. With the help of new tools and technology, the time spent searching for a diagnosis can be significantly reduced. FDNA’s platform Face2Gene Suite uses facial analysis, deep learning, and artificial intelligence to assist in the analyses of patient facial characteristics, phenotypes, and genes in search of links with syndromes and rare genetic diseases.

Applying Community Knowledge

Thanks to the contributions from the Face2Gene community, the volume of de-identified data (facial data and other patient information) uploaded to Face2Gene has enabled the successful facial recognition and identification of several syndromes from this category. Below you will find some of the validated facial masks generated by Face2Gene.

The above, along with myriad other syndromes, are available for patient evaluations via Face2Gene CLINIC.