title: Fryns syndrome: a review of the phenotype and diagnostic guidelines.
abstract: Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.
authors.affiliation: Division of Genetics, Department of Pediatrics, University of California-San Francisco, 533 Parnassus Street, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008168:Lung / Q000002:abnormalities; D010641:Phenotype; D017410:Practice Guidelines as Topic; D013577:Syndrome