Hao-Fountain Syndrome

This code identifies Hao-Fountain Syndrome, a rare neurodevelopmental disorder characterized by intellectual disability, developmental delay, and distinctive facial features. It is caused by a pathogenic variant in the USP7 gene, leading to a spectrum of neurological and systemic manifestations.

Assign this code when documentation explicitly states a diagnosis of Hao-Fountain Syndrome. This diagnosis is typically made based on genetic testing confirming a USP7 gene mutation in conjunction with characteristic clinical findings. Use this code for patients presenting with the classic phenotypic features and confirmed genetic etiology.

• Ensure genetic testing results confirming the USP7 mutation are present in the medical record.
• Do not code based solely on symptoms; a definitive diagnosis of Hao-Fountain Syndrome is required.
• Consider additional codes for specific manifestations or comorbidities associated with the syndrome (e.g., epilepsy, congenital anomalies).