Abruzzo-Erickson syndrome
Abruzzo-Erickson syndrome
Definition
Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Also known as ABERS, Abruzzo-Erickson syndrome, CHARGE-like syndrome, cleft palate-coloboma-deafness syndrome — per MONDO