{"id":13255,"date":"2024-08-23T02:40:02","date_gmt":"2024-08-23T00:40:02","guid":{"rendered":"https:\/\/valintermed.com\/?p=13255"},"modified":"2024-08-23T02:40:02","modified_gmt":"2024-08-23T00:40:02","slug":"trihorinofalangovyy-sindrom-2-go-tipa","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/trichorrhinophalanges-syndrome-type-2\/","title":{"rendered":"Trichorinophalangeal syndrome type 2"},"content":{"rendered":"
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Trichorinophalangeal syndrome type 2 (TRFS-2) is a rare genetic disorder characterized by a combination of abnormalities in the development of hair, nose, and phalanges. The syndrome usually manifests in childhood and has multisystem manifestations, including facial skeletal abnormalities and insufficient limb development. The most characteristic clinical features are short and deformed fingers, cracks in the palms and feet, and nasal abnormalities such as hypoplasia or pathology of its shape. This disease most often affects people of both sexes. The pathology is caused by mutations in a number of specific genes, which leads to disturbances in the process of tissue formation during embryonic development. This article will discuss the mechanism of pathogenesis, diagnostic approaches, risk factors, as well as methods of treatment and monitoring of patients with TRFS-2.<\/p>\n

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