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

ABSTRACT

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