ZellwegerSpektrum

ZellwegerSpektrum is a rare genetic disorder characterized by the absence of centrosomes, which are crucial for cell division and the formation of the mitotic spindle. This condition is named after Dr. Elizabeth Zellweger, who first described the syndrome in 1971. Individuals with ZellwegerSpektrum typically present with severe developmental delays, intellectual disability, and a distinctive facial appearance, including a small jaw, prominent forehead, and epicanthal folds. Other common features include vision and hearing impairments, and a distinctive odor due to the buildup of fatty acids in the body. The disorder is caused by mutations in the ZDHHC8 gene, which encodes a protein involved in centrosome biogenesis. Diagnosis is typically made through genetic testing, and there is currently no cure for ZellwegerSpektrum. Management focuses on supportive care, including physical therapy, speech therapy, and early intervention services to address the developmental delays and other associated symptoms. Research is ongoing to better understand the underlying mechanisms of the disorder and to develop potential therapies.