This book presents recent advances and international cutting-edge knowledge of rare diseases in pediatric patients, including chromosome abnormalities and syndromes characterized by growth failure, special face features, organ or gonad malformation, abnormal hormone secretion, hereditary metabolic diseases, abnormal integumentary system and immune system and arrhythmia. The epidemiology, genetics, pathogenesis, clinical manifestation, laboratory examination, diagnosis and differential diagnosis, treatment, genetic counselling, prevention and prognosis of each disease were described in details, followed by illustrations of phenotypic characteristics, respectively. Written by pediatrician with wealthy of clinical experience, this book will be a practical reference to pediatrician and endocrinologists, as well as those who are interested in related field.

Chunxiu Gong, M.D., is a chief pediatrician and professor in the Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China. She currently serves as the Honorary Director, and formerly held the position of Co-Chief of the Rare Diseases Research Laboratory. She currently holds the following positions: President of the Chinese Society of Pediatric Endocrinology, Genetics and Metabolism, Chinese Medical Association; Council member of Chinese Medical Doctor Association (CMDA); Standing Committee Member of Professional Committee, CMDA; Honorary Director of the Chinese Society of Pediatric Endocrinology and Metabolism, CMDA; President of Adolescent Health and Medicine Professional Committee of CMDA; Council member of China Alliance for Rare Diseases and Standing Committee Member of Chinese Society of Rare Diseases, Chinese Medical Association. She previously served as Vice President of Type 1 diabetes group of Chinese Diabetes Society (CDS), Chinese Medical Association and Council member of the Asia Pacific Paediatric Endocrine Society (APPES).