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Abruzzo-Erickson syndrome

Overview

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 June 2022.

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