Aarskog syndrome

Not yet reviewed

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

Disease overview

FGD1 mutation on the X chromosome causing short stature, facial, limb, and genital abnormalities, with occasional cognitive disorders. . Affects primarily but not only males with females presenting with more mild symptoms

Common symptoms

rounded facewidely spaced eyesbrachydactyly"shawl" scrotum and cryptorchidismwith variable cognitive and behavioral features.

When to suspect

  • Recommendation 1

    Clinically via signs and symptoms, lab

  • Recommendation 2

    genetic testing for FGD1 mutations.

How to test

  • Recommendation 1

    Clinically via signs and symptoms, lab

  • Recommendation 2

    genetic testing for FGD1 mutations.

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

    supportive treatment

Primary care

  • Recommendation 1

    early neuropsychiatric interventions for ADHD/Learning Disabilities

Further support

  • Recommendation 1

    symptom-specific therapy . 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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