Fryns syndrome: a review of the phenotype and diagnostic guidelines
1Division of Genetics, Department of Pediatrics, University of California-San Francisco, 533 Parnassus Street, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu
Insights
Fryns syndrome (FS), a genetic disorder, often presents with congenital diaphragmatic hernia (CDH) and limb abnormalities. This review refines diagnostic guidelines by identifying key features like brachytelephalangy and nail hypoplasia.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- Fryns syndrome (FS) is the most common autosomal recessive disorder linked to congenital diaphragmatic hernia (CDH).
- Existing diagnostic guidelines for FS were based on limited patient data and require updates due to newly reported anomalies and observed expressivity variations.
Purpose of the Study:
- To define the phenotypic spectrum of Fryns syndrome.
- To review and propose refinements to the current diagnostic guidelines for Fryns syndrome.
Main Methods:
- Comprehensive review of the existing medical literature on Fryns syndrome.
- Analysis of reported anomalies and their frequencies in probands with FS.
- Evaluation of current diagnostic criteria in light of new findings.
Main Results:
- Congenital diaphragmatic hernia (CDH) with brachytelephalangy and/or nail hypoplasia are highly indicative of Fryns syndrome.
- Pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are frequent and diagnostically useful features.
- Additional consistent malformations include CNS abnormalities (ventricular dilatation, agenesis of corpus callosum, heterotopias), cardiovascular anomalies, renal abnormalities, and uterine malformations.
Conclusions:
- The diagnostic criteria for Fryns syndrome can be refined by emphasizing specific anomalies like CDH with distal limb findings.
- Recognizing a broader spectrum of associated malformations improves diagnostic accuracy and understanding of FS variability.
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.
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