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| Disease found: | 47 XXX syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Characterized by the presence of an additional (third) X chromosome in each of a female’s cells [more info] |
| Signs and Symptoms: | Clinodactyly of the 5th finger, cognitive impairment, epicanthus, developmental delay, learning diability, tall stature, hypotonia, hip dysplasia [more info] |
| Diagnosis: | The condition may be found through karyotype test or noninvasive prenatal testing (NIPT) [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Specialist referrals and therapy [more info] |
| Referral: | AXYS reccomends various clinics and physicians . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical trials currently recruiting |