Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Background and aim: Fraser syndrome (FS) is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital defects. It may be also associated with ear, nose and skeletal abnormalities. There is a marked interfamilial clinical variability. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. Our aim was to report new cases of FS from the Egyptian population. Patients and methods: The study was carried out on 6 new cases of FS from four Egyptian families. All patients satisfied the diagnostic criteria for FS. Results: Cryptophthalmos and ambiguous genitalia were each present in 5/6 of the studied cases, while syndactyly and urinary tract abnormalities were found in 4/6 of them. Nasal anomalies, sclerocornea and abnormal hair growth pattern were constant features observed in 100% of the cases. The frequency of additional anomalies in our series was also higher than those previously reported as umbilical abnormalities and contractures of large joints. Conclusion: In conclusion, our findings add further evidence for the clinical variability associated with FS. The studied cases showed inconsistent compatibility with life and variable expressions in prenatal sonographic findings and postnatal clinical manifestations