Achondroplasia

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Skeletal dysplasia caused by a change in the fibroblast growth factor receptor 3 (FGFR3)

Common symptoms

General features include short staturemacrocephaly with frontal bossing and depressed nasal bridgespinal curvatureand hands in a "trident" positionin infancycharacteristics include a large craniumbroad foreheadmidface hypoplasiamildly narrower chestand short extremities. [ ]

When to suspect

  • Recommendation 1

    Clinical assessment of physical features, radiographic examination, genetic testing possible

How to test

  • Recommendation 1

    Clinical assessment of physical features, radiographic examination, genetic testing possible

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Primarily supportive

  • Recommendation 2

    Vosoritide, a C-type natriuretic peptide (CNP) analog, can be used to increase height in open epiphyses in children 5+

  • Recommendation 3

    alternative therapies under development

Primary care

  • Recommendation 1

    Symptom specific recommendations

Further support

  • Recommendation 1

    Accessible via patient organizations

  • Recommendation 2

    skeletal dysplasia clinics . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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