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.

fras1shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development

“…Human FRAS1 lesions cause Fraser syndrome (McGregor et al, 2003;Slavotinek et al, 2006;van Haelst et al, 2008), a complex disorder with numerous variably expressed symptoms, including ear defects and other craniofacial birth defects (Fraser, 1962;Gattuso et al, 1987;Slavotinek and Tifft, 2002;Thomas et al, 1986;van Haelst et al, 2007). The symptoms of Fraser syndrome vary extensively in both presence and severity from one patient to another.…”

Sprouty1 Haploinsufficiency Prevents Renal Agenesis in a Model of Fraser Syndrome

“…[2][3][4][5] One such is Fraser syndrome (FS; Online Mendelian Inheritance in Man [OMIM] 219000), an autosomalrecessive disease also characterized by skin lesions resulting from embryonic blistering. 6,7 One third of cases have bilateral RA, and most of the rest have unilateral RA with a contralateral hypodysplastic kidney. 6,7 FRAS1 was the first gene found mutated in FS.…”

“…6,7 One third of cases have bilateral RA, and most of the rest have unilateral RA with a contralateral hypodysplastic kidney. 6,7 FRAS1 was the first gene found mutated in FS. 8 It encodes an extracellular matrix protein that contains domains thought to interact with growth factors, thus modifying their actions.…”

Fraser Syndrome: Case Report With Review of Literature.

“…Our patient fulfilled the diagnostic criteria proposed by Thomas et al 7 which consists of at least two major and one minor or one major and four minor criteria for the diagnosis. Haelst et al 13 in 2007 proposed a revised diagnostic criteria of FS in which the urogenital and airway tract anomalies were included in the major criteria and clefting and mental retardation were removed from the criteria. The diagnosis can be made if either three major criteria, or two major and two minor criteria, or one major and three minor criteria are present in the patient.…”