October 23rd is Kabuki Syndrome
October 23rd is Kabuki Syndrome Day, and aims to raise awareness about this rare genetic condition. The syndrome is caused by mutations in the KMT2D and KDM6A genes, responsible for the epigenetic regulation of chromatin and gene expression. Key features include facial anomalies (such as arched eyebrows and an L-shaped nose), speech and coordination difficulties, as well as developmental problems such as joint hypermobility and hearing impairments. Individuals with Kabuki Syndrome may have delays in intellectual development, with significant variations between cases. Each affected person is unique and requires medical, therapeutic and educational support to improve their quality of life and address the challenges associated with the syndrome.
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