Primary care
Recommendation 1
Multidisciplinary management is needed including therapy and various specialties
15q24 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
Random mutation disorder caused by missing piece of genetic information chromosome 15 causing mental and physical development deficits.
Common symptoms
Mental deficits (behavior abnormalityautismintellectual deficitspeech delay) and physical deficits (developmental delayabnormal outer earbrachydactylybroad eyebrowsepicanthushypotoniajoint laxitypostnatal growth retardationshort stature)
When to suspect
Recommendation 1
Oligonucleotide array CGH with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24.
How to test
Recommendation 1
Oligonucleotide array CGH with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24.
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 physician specializes 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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