Individuals diagnosed with a MED12-related disorder should have the following evaluations:
- Growth parameters followed on a regular basis
- Assessment and monitoring of development and behavior
- Consideration of brain imaging for individuals with FG syndrome and Lujan syndrome
- Evaluation to identify evidence of seizures, hypotonia, and genitourinary anomalies with routine management of any identified issues
- Evaluation to identify evidence of anal anomalies for individuals with FG syndrome
- Cardiology evaluation with echocardiogram
- Annual ophthalmology evaluation
- Annual audiology evaluation for individuals with X-linked Ohdo syndrome
- Regular dental evaluations for individuals with X-linked Ohdo syndrome and Lujan syndrome