Orthopedic treatment in children with rare diseases – bone dysplasias

Aim is to present the current state in orthopedic treatment of rare diseases, with reference to the trends in the treatment in this group of patients that are most commonly encountered in the Republic of Croatia. Data sources are PubMed, MEDLINE, Scopus. Rare diseases are, by definition of the European Commission for Public Health, all those life-threatening and chronic diseases with prevalence equal to or less than 1:2.000. According to estimates by the European Organisation for Rare Diseases, currently there are about 5.000-7.000 of different disorders described. A large proportion of patients with rare diseases have problems with locomotor system. Orthopedics as a profession that deals with malformations, deformities and injuries of the locomotor system, is just one of many participating in the multidisciplinary treatment of these patients. Skeletal dysplasias are a heterogeneous group of disorders characterized by a growth disorder of cartilage and bone. According to the revision of the International Nosology and Classification of Genetic Skeletal disorders in 2006, this group includes 372 disorders classified in 37 groups, of which approximately 70 can be lethal in the perinatal period. In the treatment of these diseases is the most important team approach of all involved. The team consists of: geneticist, pediatrician, orthopedist, physiatrist and physical therapist as well as patient with his family, who must participate in every aspect of treatment and decision making. Orthopedic treatment of these patients is very demanding and it is important to bring a correct decision at the right time, whether on any attempt of conservative treatment, pending the right age for surgical treatment or the operative procedure.

Category: Review
Volume: Vol. 57, No 1, january - march 2013
Authors: O. Kubat, D. Antičević
Reference work: Paediatr Croat. 2013;57:21-6

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