Primary care
Recommendation 1
PT for motor difficulties, surgery for correction of internal/external abnormalities, education support services for intellectual support
10q22.3q23 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
Chromosomoal disorder. Partial autosomal monosomy caused by microdeletion leading to skeletal and developmental disorders
Common symptoms
Characteristic physical exam findings and neurological defects. Physical exam findings: mild facial dysmorphismmacrocephalyhypertelorism or hypotelorismdeep-set eyesupslanting or downslanting palpebral fissureslow-set earsflat nasal bridgesmooth philtrumthin upper lipcleft palate. Neurological Defects: Cerebellar and cardiac malformationspsychomotor development delayattention deficit hyperactivity disorderautism
When to suspect
Recommendation 1
Genetic testing (FISH)
How to test
Recommendation 1
Genetic testing (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
N/A, NORD recommends Cleveland Clinic Center for Rare Diseases. 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 10q22.3q23 microdeletion syndrome?
Follow to receive regular updates to the latest research development on this disease via email newsletter.