1. In this report, the American Academy of Pediatrics (AAP) provides updated guidelines on diagnosis, genetic counseling, medical evaluation, and anticipatory guidance for pediatricians taking care of individuals with achondroplasia.
2. The report includes recommendations starting from the prenatal period through young adulthood, and addresses the wide array of medical complications that are common in those with achondroplasia.
Report Rundown: Achondroplasia is an autosomal dominant skeletal dysplasia that is the most common cause of severe, disproportionate short stature. Patients are prone to a unique set of medical and psychosocial complications that require careful monitoring and anticipatory guidance. This AAP report (last updated in 2005) provides valuable background information on achondroplasia as well as guidance to primary care providers regarding health supervision. Highlights from the report include:
- Pediatricians may be asked to provide prenatal counseling to parents of a fetus who is suspected to have achondroplasia based on short long bones found on prenatal ultrasound late in gestation.
- Diagnosis should always be confirmed with radiographic studies in the newborn period, as physical exam findings may be difficult to ascertain initially.
- A detailed discussion of the genetics of achondroplasia should take place with the parents. Because it is an autosomal dominant condition, anyone with achondroplasia has a 50% chance of passing it to each of his or her offspring. However, 80% of mutations causing the condition occur de novo.
- Families should be referred to support groups such as Little People of America to help them manage the potentially significant psychosocial implications of achondroplasia on the entire family.
- Achondroplasia-specific growth and development charts should be used to assess patients at every health supervision visit.
- Important medical complications include cervicomedullary compression due to small foramen magnum, central and obstructive sleep apnea, middle ear dysfunction, and hydrocephalus. These can impact health in both the short-term (e.g. during procedures requiring anesthesia, increased risk of sudden infant death, etc.) and long-term.
- Pediatricians should consider consulting an occupational therapist to help the family adapt their home (i.e. to make toilets, light switches, door handles accessible) to enable their child to become independent.
- Medication should always be dosed based on patient size, not age.
- Parents should be thoroughly informed about potential treatment options that have been used in patients with achondroplasia. These include growth hormone therapy, surgical limb lengthening, and new medications currently in trials that may alter bone growth and morphology
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