Understanding Achondroplasia: Causes, Symptoms, and Management

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Achondroplasia

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Achondrogenesis - Chondrodysplasia - Enchondromatosis - Hypochondroplasia - Osteochondrodysplasia

General

Achondroplasia is a genetic bone growth disorder that causes dwarfism. The limbs of those who suffer from achondroplasia are short, while their torso is normal sized. This disorder occurs in 1:25,000 live births. The mutation that is involved in this condition is the FGFR3 gene which instructs the body to make the protein necessary for bone growth and maintenance. This mutation causes the protein to be overactive. Then, cartilage does not convert into bone, especially in the long bones of the arms and legs. Most of the cases of Achondroplasia are not inherited. Inherited achondroplasia occurs in 20 percent of the cases and it follows an autosomal dominant inheritance pattern. Those who inherit two mutated copies are usually stillborn or die shortly after the birth from respiratory failure.

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Signs & symptoms

Achondroplasia symptoms may include short stature, short arms and legs, especially the upper arms and thighs, short fingers, disproportionately large head, large, prominent forehead, hypotonia, apnea, hydrocephalus, spinal stenosis, obesity, recurrent ear infections, bowed legs, spinal lordosis or kyphosis.

Diagnosis

Diagnosis can either occur during pregnancy if some features are seen in the US such as hydrocephalus or a large head and then genetic tests may be performed in amniocentesis. After birth, the condition can be suspected due to physical features and then XRAY and genetic tests for the FGFR3 mutation can be performed.

Treatment

There is no specific treatment for achondroplasia but specific complications can be addressed such as ear infections or spinal stenosis.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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