Primary care
Recommendation 1
Various forms of therapy
16q24.3 microdeletion syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Inherited or random mutation disorder caused by microdeletion on the 24.3 region chromosome 16 causing autism, intellectual disabilities and physical development deficits.
Common symptoms
Autismintellecual disabilityand physical deficits/manifestations (high foreheadprotruding earcolpocephalyfrontal bossinghigh palatehypoplasia of corpus collosum)
When to suspect
Recommendation 1
Genetic testing using comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH)
How to test
Recommendation 1
Genetic testing using comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH)
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
Supportive Treatment Only
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. 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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