Abruzzo-Erickson syndrome

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Abruzzo-Erickson syndrome

Synonyms: CHARGE-like syndrome | Cleft palate-coloboma-deafness syndrome | Cleft palate-coloboma-hearing loss syndrome

An orofacial clefting syndrome that is characterized by a cleft palate ocular coloboma hypospadias mixed conductive-sensorineural hearing loss short stature and radio-ulnar synostosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Abruzzo-Erickson syndrome?

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