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| Disease found: | Acromesomelic Dysplasia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism [more info] |
| Signs and Symptoms: | Unusually short forearms and lower legs and short stature [more info] |
| Diagnosis: | Clinical evaluation, detailed patient history, identification of characteristic findings, and imaging to detect premature fusion of long bones [more info] |
| Treatment: | Symptomatic and supportive [more info] |
| Clinical Management: | Symptomatic and supportive [more info] |
| Referral: | ~ 700 physicians globally [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | 1 recruiting [more info] |