Fig. 1

Demographic information, Care pathways. A Number of patient visits from 2007 to 2017, comprising affected individuals (red) and non-affected relatives (blue). B Age and related sex distribution of affected/unaffected individuals. The median age in affected individuals was 11 years, and the median age in non-affected individuals was 37 years. Within the affected population, 51.6% (n = 86,304) of the affected patients were males and 44.4% females (n = 74,319). C Objectives of activity. 55% (n = 208,433) of activities were for diagnosis purposes, 31% (n = 118,244) for genetic counseling, and only 36% (n = 136,286) for follow-up (FU) care, 9.7% (n = 37,397) for prenatal diagnosis, and 0.3% (n = 999) for emergency, taking into account that the same patient can be seen for more than one reason. D Patient referral. Patients are mainly referred to a RCRD/CERD by a pediatrician when the index case is a child (n = 55,755; 46%), and by a specialist when the affected patient is an adult (n = 14,053; 34%). For Children: Self: 4% (n = 5242); Patient Support Group: 0% (n = 373); General Practitioner: 2% (n = 2399); Pediatrician: 46% (n = 55,755); Other Specialist: 17% (n = 20,555); Geneticist: 3% (n = 3372); Gynecologist-Obstetrician: 12% (n = 14,778); Centre of maternal and child health: 0% (n = 340); Support center: 6% (n = 7345); Multi-disciplinary diagnosis center: 7% (n = 8599); Prenatal screening centre: 0% (n = 163); Other: 1% (n = 1322); Unknown: 1% (n = 893). For Adults: Self: 16% (n = 6452); Patient Support Group: 1% (n = 324); General Practitioner: 7% (n = 3073); Pediatrician: 17% (n = 7050); Other Specialist: 34% (n = 14,053); Geneticist: 6% (n = 2495); Gynecologist-Obstetrician: 11% (n = 4434); Centre of maternal and child health: 0% (n = 51); Support center: 3% (n = 1219); Multi-disciplinary diagnosis center: 2% (n = 713); Prenatal screening centre: 0% (n = 11); Other: 3% (n = 1186); Unknown: 1% (n = 503)