Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

Abstract

Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.