Fig. 1

Physicians’ self-evaluated level of rare disease knowledge. Response options for the question ‘How do you assess your own knowledge about rare diseases?’ ranged from 1 (‘Poor’) to 5 (‘Excellent’); 2 = ‘Substandard’, 3 = ‘Average’ and 4 = ‘Good’. Statistical analysis was performed with Mantel-Haenszel Chi² Test: *, significant different distribution of responses (p < 0.05) from this physician group compared to those from all other physician groups; **, significant different distribution of responses (p < 0.05) from SP adult compared to GP and PED while no difference with SP child was detected; ***, significant different distribution of responses (p < 0.05) from SP child compared to GP and PED while no difference with SP adult was detected. PED = pediatrician. SP adult = specialists treating adults (endocrinologists and neurologists). SP child = specialists treating children (pediatric endocrinologists and neurologists)