Apert syndrome: modern aspects of diagnosis and treatment

The purpose of this review is to raise awareness of medical professionals about the features of the clinical picture, the possibilities of diagnosis (including prenatal) and therapy of patients with Apert syndrome to further improve the prognosis and improve the quality of life. Acrocephalosyndactyly is a group of rare congenital syndromes characterized by the presence of acrocephaly, craniofacial anomalies, syndactyly of the hands and feet. According to the literature, the most common form of аcrocephalosyndactyly is Apert syndrome (acrocephalosyndactyly type I, Apert syndrome, ICD 10 Q 87.0, OMIM 101200). This is a genetic disease inherited by an autosomal dominant type. CA is caused by a mutation of the fibroblast growth factor receptor type 2 gene (FGFR2) located on the long arm of chromosome 10, which leads to increased bone metabolism and impaired bone synthesis. The frequency of Apert syndrome is about 15 cases per 1,000,000 live births. Wheaton first reported this pathology in 1894, and in 1906 the French pediatrician Eugene Apert published a series of nine clinical cases with a characteristic triad of symptoms. Apert syndrome is characterized by craniosynostosis, bilateral symmetrical limb syndactyly and dysmorphic facial features. Hypoplasia of the upper jaw and bicoronal synostosis are two noticeable craniofacial defects that lead to a flat, deepened appearance of the forehead and the middle part of the face. Hypertelorism and excessive orbitality, low-set ears, flat nose and cleft palate are often found. Cardiovascular, neurological and genitourinary abnormalities may be present. Diagnosis is based on clinical criteria and molecular genetic testing. There is a possibility of prenatal detection of Apert syndrome.

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