Primary care
Recommendation 1
Surgery for internal physical defects and therapy for behavioral concerns
12q14 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
Autosomal dominant disorder caused by deletion of a piece of chromosome 12 causing learning and physical development deficits.
Common symptoms
Intellectual deficitfailure to thriveshort stature and osteopoikilosislow birth weight
When to suspect
Recommendation 1
Diagnosed through chromosomal microarray or whole exome sequencing
How to test
Recommendation 1
Diagnosed through chromosomal microarray or whole exome sequencing
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 phsician is specializing in this condition, NORD recommends various Centers 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
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