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| Disease found: | Abruzzo-Erickson syndrome |
| Current as of: | Thu Nov 21 2024 |
| 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 [more info] |
| Signs and Symptoms: | Cleft palate, coloboma, hypospadius, deafness, short stature, radioulnar synostosis, flat face, coronal hypospadias, macrotia, malar flattening [more info] |
| Diagnosis: | Clinical exam and genetic testing for TBX22 mutations [more info] |
| Treatment: | Corrective surgeries as needed [more info] |
| Clinical Management: | Vision support, PT/OT/ST, educational support [more info] |
| Referral: | 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: | None are available, but can sign up to be notified when one becomes available |