Yuan-Harel-Lupski Syndrome (YUHAL) – 17p12

1. Causes of the disease

Yuan-Harel-Lupski syndrome (YUHAL) is a rare genetic disorder caused by a duplication in the short arm of chromosome 17 (17p12). This genetic abnormality affects genes involved in the nervous system and development, resulting in multiple symptoms.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are common.
• Intellectual disability : Mild to moderate intellectual disability may be present.
• Behavioral abnormalities : May involve autism-related behaviors, attention deficits, and hyperactivity.
• Epileptic seizures : Some patients experience epileptic seizures.
• Specific physical characteristics : Skeletal abnormalities and distinctive facial features may be present.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Behavioral therapy : Psychological and behavioral therapy may be used to treat behavioral problems.
• Epilepsy Management : Anti-epileptic medications may be prescribed if needed.

4. Prognosis

Although it depends on the severity of each individual’s symptoms and the treatment required, proper therapy and medical support can help alleviate symptoms and improve quality of life.

5. The burden on parents

Because long-term therapy and medical support are required, the burden on families can be great. It is important to cooperate with support groups and specialized institutions to establish a support system.