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| Disease found: | Acrodysostosis |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features; genetic mutations in PRKAR1A gene (type 1) or the PDE4D gene (type 2) indicated [more info]. |
| Signs and Symptoms: | Abnormally small hands and feet with short, stubby fingers and toes (severe brachydactyly), Distinct facial features, hormone non-responsiveness [more info] |
| Diagnosis: | Characteristic symptoms, a detailed patient history, a thorough clinical evaluation; molecular testing if genetic etiology [more info] |
| Treatment: | Symptomatic and supportive [more info] |
| Clinical Management: | Symptomatic and supportive [more info] |
| Referral: | Primarily non-US based [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None active [more info] |