Primary care
Recommendation 1
Vision support, PT/OT/ST, educational support
Abruzzo-Erickson syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
CHARGE-like syndrome (Cleft palate-coloboma-deafness syndrome; Cleft palate-coloboma-hearing loss syndrome), X-linked recessive, caused by mutations in the TBX22 gene
Common symptoms
Cleft palatecolobomahypospadiusdeafnessshort statureradioulnar synostosisflat facecoronal hypospadiasmacrotiamalar flattening
When to suspect
Recommendation 1
Clinical exam and genetic testing for TBX22 mutations
How to test
Recommendation 1
Clinical exam and genetic testing for TBX22 mutations
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
Corrective surgeries as needed
Further support
Recommendation 1
No specific physicians specialize in this condition, often managed by pediatrics. 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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