Table 2.

Importance of identification of a genetic cause for short stature

• Guide growth hormone treatment of some patients

• Provide prognostic information

• Facilitate surveillance for other associated conditions that may require treatment

• In rare cases, a genetic diagnosis may identify a disorder in which growth therapy is contraindicated (e.g., the Bloom syndrome)

• A genetic diagnosis can provide peace of mind for the patient and caregivers by ending the diagnostic odyssey

• Prompt genetic counseling for future offspring and family members

• Prompt identification of additional family members

• Inform pharmacogenomics in the future (this has not yet been demonstrated)