Acrodysostosis

Not yet reviewed

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

Disease overview

Rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features; genetic mutations in PRKAR1A gene (type 1) or the PDE4D gene (type 2) indicated .

Common symptoms

Abnormally small hands and feet with shortstubby fingers and toes (severe brachydactyly)Distinct facial featureshormone non-responsiveness [ ]

When to suspect

  • Recommendation 1

    Characteristic symptoms, a detailed patient history, a thorough clinical evaluation

  • Recommendation 2

    molecular testing if genetic etiology [

How to test

  • Recommendation 1

    Characteristic symptoms, a detailed patient history, a thorough clinical evaluation

  • Recommendation 2

    molecular testing if genetic etiology [

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

    Symptomatic and supportive

Primary care

  • Recommendation 1

    Symptomatic and supportive

Further support

  • Recommendation 1

    Primarily non-US based . 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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