Abruzzo-Erickson syndrome

Not Verified
This 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

TREATMENT

  • Recommendation 1

    Corrective surgeries as needed

PRIMARY CARE

  • Recommendation 1

    Vision support, PT/OT/ST, educational support

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

Sources

No data available

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