Consanguinity and Genetic Diseases in Egypt Samia A. Temtamy Table of Contents References In Egypt, both consanguinity and genetic diseases have been known since the Pharaos. Islamic and current Egyptian laws prohibit marriages closer than first cousins. Figure 1. Egypt Egypt, a Mediterranean North African country with a central location at the junction of 3 continents attracted gene flow from various invaders. Geneticists classify unions between second cousins or closer as consanguineous. Children of first-cousin marriages inherit identical gene copies from each parent at 1/16 of their gene loci (F=0.0625). Birth incidence of malformations in Egyptian newborns ranges between 1.16 and 3.17%. The frequency of malformations at birth showed that CNS malformations were the most common (9.33/1000). Studies of parental consanguinity in the Egyptian population showed a frequency ranging from 20 to 42%. Parental consanguinity rates in groups of Egyptian patients with various birth defects were high suggesting a high rate of autosomal recessive disorders related to other patterns of inheritance. Parental consanguinity rates in Egyptian patients with specific malformations and genetic diseases affecting various systems and organs were extensively reviewed. High rates of consanguinity were found in autosomal recessive and polygenic disorders. There was no increase in autosomal dominant, X linked or chromosomal disorders. New autosomal recessive disorders were first defined among Egyptians. A phenomenon of multiple genetic disorders in the same individual or sibship was observed. Also, because of high parental consanguinity quasidominant pattern of inheritance was observed. The high consanguinity rate reported in our society results in an increased rate of certain genetic diseases, mainly autosomal recessive and polygenic disorders. 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