{"id":13187,"date":"2024-08-23T03:46:21","date_gmt":"2024-08-23T01:46:21","guid":{"rendered":"https:\/\/valintermed.com\/?p=13187"},"modified":"2024-08-23T03:46:21","modified_gmt":"2024-08-23T01:46:21","slug":"sindrom-timoti","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/timothy-s-syndrome\/","title":{"rendered":"Timothy syndrome"},"content":{"rendered":"
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Timothy syndrome is a rare genetic disorder characterized by a combination of various developmental abnormalities and disorders, including cardiogenetic and endocrine aspects. The disorder was first described in 1992 and is caused by mutations in the KCNJ2 gene, which is responsible for the conductivity of ion channels in cells. Manifestations of the syndrome can range from typical facial abnormalities and growth disorders to more serious conditions such as sepsis, arrhythmia, and various mental development disorders. Due to the diversity of clinical manifestations of Timothy syndrome, comprehensive diagnostics and a multidisciplinary approach to treatment are necessary.<\/p>\n

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