Overview

Developmental diseases include more than 3000 diseases and can associate organ malformation, dysmorphism, development disorders and/or intellectual deficiency. Even though the considerable effort in the search for genes in the last 20 years has led to the identification of thousands of genes associated with Mendelian diseases, half of the individuals with severe development anomalies remain without a genetic diagnosis. It is important to pursue the ambition to contribute to the goal fixed by Europe, namely the identification of the large majority of genes responsible for rare diseases with development anomalies, and to be able to provide genetic counselling to patients and their families. In the past, scientific research to discover genes required a large number of families and individuals and was slow and expensive to carry out. Today, this approach has been facilitated by next generation sequencing.

Eligibility

Inclusion Criteria:

• Patients (foetus/children and adults) with development anomalies whose molecular bases are unknown, or for which the pathophysiological mechanism is poorly understood
• Consent of the patient or his/her legal representative
• Suitable level of understanding

Exclusion Criteria:

• Patients without national health insurance cover