Management

There are currently no established clinical guidelines for the clinical management.

Recommended Evaluations Following Initial Diagnosis in Individuals with H1-4Syndrome
•    Developmental assessment
•    Neuropsychiatric evaluation including ASD
•    Neurological evaluation or EEG if seizure is a concern
•    Echocardiogram: To evaluate for structural cardiac anomalies
•    Examine males for cryptorchidism
•    Evaluate for hypothyroidism
•    Evaluate dentition, eye, and skeletal issues if a clinical concern
•    Genetic counselling