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| Disease found: | ADNP Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | A neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. [more info] |
| Signs and Symptoms: | "Core" symptoms include hypotonia, oral motor dysfunction, exhibit poor social interaction, mild to severe repetitive behaviors, sensory sensitivities and a high pain threshold. [more info] |
| Diagnosis: | Identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. [more info] |
| Treatment: | Directed toward the specific symptoms that are apparent in each individual. [more info] |
| Clinical Management: | Directed toward the specific symptoms that are apparent in each individual. [more info] |
| Referral: | None currently available. [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] |