The Committee on Genetics of the American Academy of Pediatrics (AAP) has released a clinical report that includes guidelines to help physicians oversee the health of patients with achondroplasia. The report was published in the September 2005 issue ofPediatrics and is available online athttp://www.pediatrics.org/cgi/content/full/116/3/771.

Most patients with achondroplasia have normal intelligence and can live independently; however, they are at a high risk of certain health and psychosocial problems. Anticipatory care directed at identifying high-risk patients is a significant factor in preventing serious sequelae.

The AAP guidelines for overseeing the health of patients with achondroplasia at various ages include the following:

Prenatal

• Diagnose achondroplasia through ultrasonography and molecular testing.

• Explain the condition and treatment options to the parents and assist them with decision making.

Birth to one month of age

• Confirm the diagnosis with radiography.

• Document the child’s measurements (i.e., occipitofrontal circumference, body length, and body weight).

• Provide an overview of the condition and what to expect as well as education materials and support resources.

One month to one year of age

• Confirm diagnosis if needed.

• Assess growth and development.

• Counsel parents on how to help prevent kyphosis and how to deal with otitis media.

• Assess parents’ emotional well-being and social support systems.

One to five years of age

• Continue to follow growth and development.

• Evaluate child for bowed legs, hip flexion contractures, sleep apnea, and gastroesophageal reflux and screen for speech and hearing development.

• Discuss adapting the home, toys, and clothing to fit the child’s needs.

• Discuss weight control and toileting.

• Determine if occupational therapy is needed.

• Discuss preparing the child for school.

Five to 13 years of age

• Assess growth, development, and social adaptation.

• Review weight-control issues and appropriate physical activities.

• Perform a physical examination.

• Evaluate for signs and symptoms of spinal stenosis, sleep apnea, and orthodontic problems and screen for hearing and speech development. Consider orthopedic referral at approximately five years of age.

• Emphasize correct posture and consider physical therapy if needed.

• Prepare child for school and interaction with others, provide support resources for the child, and emphasize socialization and independence.

13 to 21 years of age

• Monitor growth.

• Review weight-control issues.

• Continue to evaluate for sleep apnea and orthodontic problems.

• Ensure that the patient has a proper understanding of the condition.

• Discuss contraception.

• Reevaluate the patient’s social adaptation; encourage social participation.

• Assist with transition into adulthood (e.g., long-term goals, higher education, career, independence).