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Rare diseases, as defined in the world; which are seen 1 in 2000 or less and most of themare progressive, metabolic, chronic and some of them can be fatal diseases. Many rarediseases have been described in the literature, and 80% of these diseases are inherited.Approximately half of the patients are children. One-third of children with rare diseasescannot see the age of 5. The main reason for this situation is that most rare diseases arevery difficult to treat or cannot be treated. Each rare disease has its own characteristics.Because of this feature, special care and treatment methods, medicines, special foods, andmedical devices are needed. Although the diseases are rare, the results are very severe forthe sick individual, family, and society.
In this book, we tried to create a guide for the patients, their families, and the treatingdoctors and pediatricians for rare diseases seen in children. Because rare diseases in childrenneeded an easily accessible, up-to-date, comprehensive, and a source of diagnosis,treatment, and management supported by reference literature. This book is intended to filla gap in medical literature as a practical guide and a reference for pediatrician practice.The rapid and numerous progress in the field of pediatrics is reflected in the updated informationof this edition. This book is presented in a short, uniform format covering morethan 50 rare diseases, diagnosis, treatment, management, and supportive care.