There are multiple tests used to diagnose this disorder. These include:

• Genetic tests that are conducted through urine or blood samples to detect hereditary contributions
• Chromosome testing - this is another method to catch genetic defects contributing to this disorder
• Lead tests can also be conducted to find out if lead is present in the patient's environment
• Hormonal screening to check the thyroid hormone (low levels of this hormone can lead irregular growth)
• neuroimaging tests (CT and MRI scans) to check for any injuries to the central nervous system and the brain