Achondroplasia
Also known as: ACH, Dwarfism, Short-limbed dwarfism
Achondroplasia is the most common form of dwarfism, characterized by rhizomelic shortening of the limbs, relatively large head with frontal bossing, and midface hypoplasia. It is a genetic disorder of bone growth that results in disproportionate short stature.
Imagine your bones didn't grow as long as they should. That's like achondroplasia! It makes people shorter, especially their arms and legs. They might also have a bigger head and need help with breathing sometimes.
Signs & Symptoms
- Disproportionate short stature
- Rhizomelic shortening of limbs (upper arms and thighs)
- Relatively large head (macrocephaly)
- Frontal bossing (prominent forehead)
- Midface hypoplasia (flattened facial features)
- Short fingers (brachydactyly)
- Trident hand (separation between middle and ring fingers)
- Spinal stenosis (narrowing of the spinal canal)
- Recurrent ear infections
- Apnea (pauses in breathing)
- Kyphosis (curvature of the upper back)
- Lordosis (curvature of the lower back)
- Hypotonia (decreased muscle tone) in infancy
Treatment Options
Vosoritide
MODERATELY EFFECTIVE Approved 2021Limb Lengthening Surgery
MODERATELY EFFECTIVEDecompression Surgery for Spinal Stenosis
HIGHLY EFFECTIVEManagement of Ear Infections
SUPPORTIVETreatment for Apnea
SUPPORTIVEPhysical Therapy
SUPPORTIVEDiagnosis
- Clinical evaluation
- Radiographic studies (X-rays)
- Genetic testing (FGFR3 gene sequencing)
History
Achondroplasia has been recognized since ancient times, with depictions found in ancient Egyptian and Roman art. The genetic basis was elucidated in the 1990s with the discovery of mutations in the FGFR3 gene.
Recent Breakthroughs
FDA Approves Vosoritide for Achondroplasia
The FDA approved vosoritide, a C-type natriuretic peptide (CNP) analog, for children with achondroplasia. This medication helps promote bone growth and improve height velocity.
Long-term Efficacy of Vosoritide Demonstrated
Longitudinal studies have shown sustained improvements in height and body proportions in children treated with vosoritide over several years.