Rare diseases are pathologies with a very low incidence. A disease is considered to be rare when it affects no more than 5 individuals out of 10,000. These diseases are generally chronic, even degenerative, sometimes syndromic, disabling people in morpho-psychological, familiar, and social terms. They are also complex diseases, not only for the number and diversity of their forms but also for the great variability of symptoms, signs, and expressions. The incidence of rare diseases is generally low, 7,000 to 8,000 forms have been observed worldwide; 80% have a genetic origin, 20% are acquired diseases. In Europe there are about 20-30 million people with rare diseases. About 2 million patients are estimated to be in Italy many of which are of pediatric age. Cranio-facial-orbital malformations fall into the group of rare diseases and are determined by developmental alterations during the embryonic period. They can involve one or more bony structures and the soft tissues. The incidence depends on the type of malformation, with various degrees of transmissibility. Due to the modern reconstructive and rehabilitative techniques made available by maxillofacial and cranio-facial surgery it is possible to resolve some problems related to these pathologies. Therapeutic rehabilitative protocols are defined together with a team of various specialists that follow the patients continuously and precisely. The applicable reconstructive methods differ. Patients can be treated from pediatric age and then followed until adulthood using multi-step surgery. The approach and treatment always involve a multidisciplinary team in which various specialists compare opinions. For information on rare diseases see: www.orphanet.org
Non-profit associations support patients and family members. Among these is the ASM (Italian Association of Malformations) based in Milan (www.asmonlus.it).