Autosomal dominant genetic disorders among patients attending the genetic clinic of medical research institute

ABSTRACT

A total number of 1600 patients referred to the Genetic Clinic, Medical Research Institute, Alexandria University, were assessed to determine the frequency of autosomal dominant disorders. It was found that 5.25% [84 patients] had autosomal dominant disorders. Bone dysphasia/short stature were the most common disorders 47.60% [40/84], where half of them were achondroplasia cases. Osteogenesis imperfect a type I was detected in 10 cases. Dysmorphic autosomal dominant syndromes were observed in 35.70% [30/4]. Syndromes with craniosynostosis were more frequent [26/84]. Encountered in this study also, 9 cases [10.70%] with Hamartoses [6 cases had Neurofibromatosis type I and II and 3 with Tuberous Sclerosis]. Skin disorders were reported in 6.0% cases [5/84]. Positive family history were observed among cases with Achondroplasia, Apert, Crouzon, Albright hereditary osteodystrophy, Neurofibromatosis type II and Waardenburg syndrome. The remainder was sporadic due to fresh mutations especially in cases with older paternal age mainly in achondroplasia, Aped and Crouzon syndromes. The chronic nature of genetic disorders requires life long medical attention, expensive supportive and symptomatic therapy, and specialized care