Abstract

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier

Background: Genetic disorders remain a major cause of morbidity, mortality and handicap in Egypt. This study aims to describe the morbidity pattern of all children with suspected genetic disorders referred to a genetic unit in Egypt. Methods: A retrospective hospital record-based descriptive study was carried out in the Genetic Unit of Mansoura University Children’s Hospital, Mansoura, Egypt during a period of 13 years from 2003 up to 2015. The following data was collected for 3197 referred cases: child age at referral, sex, residence and karyotyping results. Results: According to ICD-10 classification of congenital malformations the commonest diagnostic categories are congenital malformations, deformities and chromosomal abnormalities (79.7%) specially chromosomal malformations (73.5%) followed by endocrine, nutritional and metabolic diseases (8.6%), diseases of the nervous system (4.8%), mental and behavioral disorders (3.9%). Mucopolysaccharidosis is the most common type of endocrine, nutritional and metabolic diseases in referred cases. While mental retardation is the commonest mental and behavioral disorders; cerebral palsy and Duchenne muscular dystrophy were the commonest diseases of the nervous system. The commonest congenital malformations of the nervous system are microcephaly and congenital hydrocephalus. Achondroplasia and Osteogenesis imperfect are the most frequent congenital malformations of the musculoskeletal system. Down syndrome is the most common chromosomal abnormality (88.8%). Conclusions: Primary prevention is the most cost effective method for prevention of these disorders. Pre-natal detection of disease should be more available. Educational efforts are needed to increase genetic literacy of the general public and healthcare workers.