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| Disease found: | Aarskog syndrome |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | FGD1 mutation on the X chromosome causing short stature, facial, limb, and genital abnormalities, with occasional cognitive disorders. [more info]. Affects primarily but not only males with females presenting with more mild symptoms [more info] |
| Signs and Symptoms: | rounded face, widely spaced eyes, brachydactyly, "shawl" scrotum and cryptorchidism, with variable cognitive and behavioral features. [more info] |
| Diagnosis: | Clinically via signs and symptoms, lab: genetic testing for FGD1 mutations. [more info] |
| Treatment: | supportive treatment [more info] [more info] |
| Clinical Management: | early neuropsychiatric interventions for ADHD/Learning Disabilities [more info] |
| Referral: | symptom-specific therapy [more info]. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |