Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics
https://doi.org/10.36485/1561-6274-2021-25-3-28-35
Abstract
Fraser syndrome (OMIM # 219000; ORPHA: 2052; ICD-10: Q87.0) is a rare, disease with an autosomal recessive type of inheritance is characterized by abnormalities in the development of the eyes, kidneys, larynx, ears, and bone systems (cryptophthalmos, syndactyly, abnormalities of the kidneys, urogenital tract, and respiratory system). The article presents current literature data on the phenotypic and genotypic features of Fraser syndrome, the management of patients with new opportunities for genetic diagnosis and treatment. The syndrome, described by D. Fraser in 1962, is caused by mutations in the FRAS1, FREM2, GRIP genes. The diagnosis of the Fraser syndrome phenotype is established in the presence of the main criteria (cryptophthalmos, syndactyly, abnormalities of the urinary and respiratory system, genitals, family history indicating a closely related marriage) and secondary (congenital malformations of the nose and ears, skull ossification defects, anorectal abnormalities, umbilical hernia, etc.). Molecular genetic testing proves a rare disease, requires genetic counseling. The management of patients is carried out jointly by an ophthalmologist, an otolaryngologist, an audiologist, a nephrologist, a urologist, a maxillofacial surgeon and other specialists.
About the Authors
J. G. Leviashvili
St. Petersburg Pediatric Medical Academy
Russian Federation
Russian Federation
Zhanna. G. Leviashvili MD, PhD, DMedSci Affiliations, Prof., Department of faculty pediatrics, professor
194100, St-Petersburg, Litovskaya str., 2.
Phone: (812) 416-52-86
N. D. Savenkova
St. Petersburg Pediatric Medical Academy
Russian Federation
Russian Federation
Nadezhda D. Savenkova MD, PhD, DMedSci Affiliations, Prof., Head of the Department of faculty pediatrics
194100, St-Petersburg, litovskaya str., 2
Phone: (812) 416-52-86
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For citations:
Leviashvili J.G., Savenkova N.D. Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics. Nephrology (Saint-Petersburg). 2021;25(3):28-35. (In Russ.) https://doi.org/10.36485/1561-6274-2021-25-3-28-35
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