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| Disease found: | Pentasomy X |
| Current as of: | October 8, 2024 |
| Disease Overview: | Non-inherited disorder of sex chromosome anomaly caused by the presence of three extra X chromosomes in females. [more info] |
| Signs and Symptoms: | Hypotonia, low-set, posteriorly rotated ears, camptodactyly of digits, hypertelorism, developmental delay, intellectual disability [more info] |
| Diagnosis: | Cytogenetics studies/karotype [more info] |
| Treatment: | Supportive Treament Only [more info] |
| Clinical Management: | Specialist referrals and therapy [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Two clinical trials currently recruiting |