Primary care
Recommendation 1
Clinical geneticists, pediatricians, endocrinologists, speech therapists, psychologists, pediatric ophthamologists, and gastroenterologists are consulted to manage patient symptoms and specific treatment.
USP7-Related Diseases
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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.
Common symptoms
Hypotoniajoint contractureseye abnormalitieshypogonadismdysmorphic facial features at young age. Developmental delaylanguage and speech impairmentautismand intellectual disability as patients grow older. GERD and seizures are common.
When to suspect
Recommendation 1
Abnormal brain MRI, clinical evaluation, and genetic testing.
How to test
Recommendation 1
Abnormal brain MRI, clinical evaluation, and genetic testing.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Early intervention and symptom-specific treatment for adequate nutrition and achieving developmental goals.
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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