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Disease found:Aarskog syndrome
Current as of:Thu Nov 14 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. Initial virtual care is also available through organizations like TeleRare Health.
Clinical Trials:None are available, but can sign up to be notified when one becomes available

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