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| Disease found: | USP7-Related Diseases |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disease due to autosomal dominant mutations in USP7 and a deletion in chromosome 16p13.2, causing developmental delay, autism, epilepsy, speech delay, and eye and gastrointestinal issues. [more info] |
| Signs and Symptoms: | Hypotonia, joint contractures, eye abnormalities, hypogonadism, dysmorphic facial features at young age. Developmental delay, language and speech impairment, autism, and intellectual disability as patients grow older. GERD and seizures are common. |
| Diagnosis: | Abnormal brain MRI, clinical evaluation, and genetic testing. |
| Treatment: | Early intervention and symptom-specific treatment for adequate nutrition and achieving developmental goals. |
| Clinical Management: | Clinical geneticists, pediatricians, endocrinologists, speech therapists, psychologists, pediatric ophthamologists, and gastroenterologists are consulted to manage patient symptoms and specific treatment. |
| Referral: | Medical team of internists and pediatricians should include a genetic counselor. Patients can find an expert here.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical trial is recruiting for patients who have features of autism. |