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| Disease found: | Acromicric Dysplasia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. [more info] |
| Signs and Symptoms: | Brachydactyly, tapering metacarpals, cone-shaped phalanges, short long bones, malformation of femur, and growth retardation. [more info] |
| Diagnosis: | Acromicric Dysplasia may be diagnosed based upon a thorough clinical evaluation, characteristic physical findings (e.g., abnormally short hands), a detailed patient history, and a variety of specialized tests such as advanced imaging techniques. [more info] |
| Treatment: | Treatment is directed toward the specific symptoms that are apparent in each individual. [more info] |
| Clinical Management: | Symptomatic and supportive [more info] |
| Referral: | ~ 6,500 physicans globally [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | 15 recruiting [more info] |