What is the mean adult height in achondroplasia?

Mean adult height in achondroplasia is 131 cm (males) and 124 cm (females); vosoritide treatment in trials improved height velocity by ~1.57 cm/year over placebo in pediatric patients.

What complications require urgent neurological evaluation?

Foramen magnum stenosis causing apnea, hypotonia, hyperreflexia, or myelopathy requires urgent MRI and neurosurgical decompression; polysomnography at diagnosis and 6-monthly until age 3 is recommended.

How does vosoritide work in achondroplasia?

Vosoritide is a C-type natriuretic peptide analog that antagonizes the mutant FGFR3 signaling in growth plate chondrocytes; daily subcutaneous injection; approved for children ≥2 years with open growth plates.

What is the Z-score for head circumference in achondroplasia?

Achondroplasia-specific head circumference charts should be used; macrocephaly is universal due to megalencephaly; hydrocephalus requiring ventriculoperitoneal shunting occurs in ~5% of patients.

What spinal complications occur in adult achondroplasia?

Lumbar spinal stenosis causes neurogenic claudication in >80% of adults by age 50; thoracolumbar kyphosis in infancy (usually resolves); cervical stenosis from C1-C2 instability also occurs.

Achondroplasia Height Prediction and Vosoritide Response

Predicts adult height in achondroplasia using achondroplasia-specific growth charts, annual height velocity on vosoritide therapy, and foramen magnum stenosis risk scoring.

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Frequently Asked Questions

What is the mean adult height in achondroplasia?

What complications require urgent neurological evaluation?

How does vosoritide work in achondroplasia?

What is the Z-score for head circumference in achondroplasia?

What spinal complications occur in adult achondroplasia?