Clinical Guidance

Individuals with achondroplasia have short stature with rhizomelic shortening of the limbs, macrocephaly, characteristic facies with frontal bossing and midface retrusion, exaggerated lumbar lordosis, limitation of elbow extension and rotation, genu varum, brachydactyly, and trident appearance of the hands. Excess mobility of the knees, hips, and most other joints is common . Growth. Average adult height for men with achondroplasia is 129.9 ± 6.25 cm (51 inches) and for women, 122.4 ± 5.9 cm (48 inches). There are updated growth charts available for length, weight, head circumference, and height-to-weight ratio . Vosoritide, a C-type natriuretic peptide (CNP) analog, was approved to increase height in individuals with achondroplasia starting at birth. Studies showed an average of 1.

Diagnostic Criteria

The clinical and radiologic features that can establish the diagnosis of achondroplasia have been well defined .

Suggestive Findings

The diagnosis of achondroplasia should be suspected in a newborn with the following clinical features; characteristic radiographic features can confirm the diagnosis.

• Clinical features in a newborn

• Proximal shortening of the arms

Management Guidelines

Recommendations for health supervision of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics . These recommendations serve as guidelines and do not replace individual decision making. The review by also provides management recommendations. Specialized skeletal dysplasia clinics exist; their recommendations may vary slightly from these general guidelines. Evaluations Following Initial Diagnosis Clinical manifestations in achondroplasia vary modestly. In order to establish the extent of disease in an individual diagnosed with achondroplasia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Achondroplasia: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

Recommendations for surveillance are incorporated into the American Academy of Pediatrics guidelines . To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Achondroplasia: Recommended Surveillance