Prevalence of head and neck abnormalities among people with consanguineous parents

Background: A high percentage of the patients at ENT or plastic surgery clinics have ENT abnormalities, either congenital or those developing later in life. Some are life threatening, while others cause disability and esthetic problems, with profound consequences for the affected child and the family. In addition, ENT abnormalities usually place stress on interpersonal relationships, causing social isolation, unhappiness and depression. The majority of these abnormalities is genetic and follows autosomal recessive pattern of inheritance. Geneticists believe that there is a higher frequency of autosomal recessive disorders among the offspring of consanguineous parents. The aim of this study was to find the frequency of ENT abnormalities among children born of consanguineous parents. Methods: We studied 3503 files (pedigrees) of patients referred for genetic counseling at the Department of Genetics at Imam Khomeini Hospital, Tehran, Iran, from 1999 to 2000. We studied these cases according to degree of parental consanguinity, patterns of inheritance and gender using SPSS v.15. Results: Of all 3503 files, 206 had ENT abnormalities, of which 157 had consanguineous marriages. Among these 157 pedigrees, 496 cases had consanguineous parents. Out of the 496 cases, the four most frequent ENT abnormalities were: 115 cases (23.2%) of deafness, 53 cases (10.7%) of hearing loss, 12 cases (2.4%) of cleft lip and palate, and 5 cases (1%) of cleft palate. Conclusion: This high frequency of ENT abnormalities indicates that consanguineous marriage should be discouraged by Iranian policy makers in order to reduce the burden of these disorders on society. Further research into the cultural problems that encourage consanguineous marriage and ways of resolving these problems is recommended.