Primary care
Recommendation 1
Appropriate referral and management of acute symptoms
20p12.3 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
20q12.3 is a microdeletion syndrome is a chromosome abnormality where a segment of genetic material on chromosome 20 at position 12.3 is deleted.
Common symptoms
Abnormal facial features (HypertelorismDownslanted palpebral fissuresEpicanthusHypoplasia of the maxillaMacrocephalyNarrow mouth) and Wolff-Parkinson-White syndrome
When to suspect
Recommendation 1
Revealed by special techniques such as FISH or microarrays (array-CGH)
How to test
Recommendation 1
Revealed by special techniques such as FISH or microarrays (array-CGH)
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
Interested in learning more about 20p12.3 microdeletion syndrome?
Follow to receive regular updates to the latest research development on this disease via email newsletter.