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| Disease found: | Achard syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare genetic syndrome featuring connective tissue abnormalities [more info] |
| Signs and Symptoms: | Brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet, abnormally long and slender fingers [more info] |
| Diagnosis: | Symptoms findings on clinical exam [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referral and surgery if needed [more info] |
| Referral: | Rheumatology. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are recruiting, but can sign up to be notified when one becomes available |