Profile of genetic disorders prevalent in Northeast region of Cairo, Egypt

Abstract EN

As clinical geneticists, we recently reviewed our 43 years' experience in an attempt to represent the frequency of genetic disorders in the Division of Genetics at Pediatric Hospital, Faculty of Medicine, Ain-Shams University, Cairo, Egypt, during the period from 1966 to 2009.

All patients (from birth up to 18 years) suspected of having a genetic disorder were referred to the Genetics Clinic in the same hospital.

28,689 Patients were proved to have genetic disorders after full investigations among 660,280 children attending the Pediatrics Hospital which constituted 4.35% or 43.5 / 1000.

Neurologic disorders were the most common (31.38 %) followed by hematologic disorders (18.48 %), chromosomal abnormalities (11.51 %), fetal, neonatal and infant deaths (6.65 %), special senses (5.82%), inborn errors of metabolism (4.24%), endocrine disorders (3.87 %), skeletal disorders (3.17 %), genitors-gonadal anomalies (3.10%), neuromuscular disorders (2.86 %), syndromes (2.08 %), genodermatoses (1.92%), cardiac disorders (1.47 %), gastrointestinal tract anomalies (1.37 %), renal anomalies (0.26 %), connective tissue disorders (0.26 %), respiratory defects (0.22%), vascular anomalies (0.21%), and immunologic disorders were the least common (0.19 % ).

Our study showed a high prevalence of genetic diseases among Egyptians which are nearly the same in the other studies in Egypt and are rapidly becoming a major public health concern.

Establishment of national or hospital based registers for genetic disorders are very important to know the magnitude of the problem so that the national program for the prevention of genetic disorders can be implemented.