Rare Diseases and Orphan Drugs

Growth & Genetic Obesity Syndromes

For Growth 5 sub thematic groups are linked grounded on a different multidisciplinary platoon and different individual and treatment approaches.

A group of imprinting diseases for which care have been well organized:

Prader Willi Syndrome, Silver Russell Syndrome, and Beckwith Wiedemann Syndrome and a group of Growth hormone and IGF- I insensitivity including Laron and Noonan Syndrome, as well as other overgrowth and growth deceleration runs.

Rare conditions, affecting growth, with life-long endocrine and metabolic consequences, include imprinting diseases with common molecular mechanisms( Prader Willi, Silver Russell, Beckwith Wiedemann runs), a group of cases with GH and/ or IGF- I insensitivity and cases with other causes of short elevation or overgrowth. This group of diseases needs a multidisciplinary care, networks of croakers around Europe to propose common molecular opinion strategies, care and clinical trials. Current challenges concentrate on perfecting clinical and molecular opinion, personalised remedy, and unraveling long- term consequences of these clinical runs, thereby proposing better opinion, treatment and information from the antenatal period to majority for the cases and their families.