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| Disease found: | Dysplasia Epiphysealis Hemimelica |
| Current as of: | October 8, 2024 |
| Disease Overview: | A developmental bone disease of childhood also known as Trevor's disease. [more info] |
| Signs and Symptoms: | Painless mass or swelling on one side of an affected join, muscle weakness, limb length abnormality [more info] |
| Diagnosis: | The diagnosis of DEH is made based on the child’s history and the evaluation of imaging studies which include plain radiographs (X-rays), computed tomography (CT) and particularly magnetic resonance imaging (MRI). [more info] |
| Treatment: | Surgical removal of the osteocartilaginous mass [more info] |
| Clinical Management: | Specialist referrals and surgical management [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: | None are available, but can sign up to be notified when one becomes available |