Aarskog syndrome

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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.

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

Sources

No data available

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