Lacy's syndrome
Lacy's syndrome is a rare genetic disorder characterized by a combination of symptoms, including short stature, skeletal abnormalities, and heart defects. It is caused by mutations in the LZTR1 gene, which plays a role in cellular processes. The syndrome is typically diagnosed in childhood and can vary in severity among affected individuals.
Individuals with Lacy's syndrome may also experience intellectual disabilities and developmental delays. Management of the condition often involves a multidisciplinary approach, including regular monitoring and treatment of associated health issues. Early intervention can help improve quality of life for those affected by this syndrome.