{"id":11772,"date":"2025-07-26T02:26:19","date_gmt":"2025-07-26T00:26:19","guid":{"rendered":"https:\/\/valintermed.com\/?p=11772"},"modified":"2025-07-26T02:26:19","modified_gmt":"2025-07-26T00:26:19","slug":"sindrom-kabuki","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/kabuki-syndrome\/","title":{"rendered":"Kabuki syndrome"},"content":{"rendered":"
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Kabuki syndrome (or Kabuki-macrosomia syndrome) is a rare genetic disorder characterized by a unique set of physical, intellectual, and medical features. It was first described in 1981 by Japanese scientists, which gave rise to its name, based on the Japanese Kabuki theater, noted for its expressive makeup. The main clinical manifestations include characteristic changes in facial and body anatomy, developmental delay, hypotonia, and the presence of various anomalies. External signs are often combined with internal pathologies, such as heart defects, kidney disorders, and hearing disorders. In addition, patients may experience a wide range of cognitive impairment, from mild mental retardation to more profound disorders.<\/p>\n

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