Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis and short stature. It was first characterized in 1977 by Abruzzo and Erickson as a CHARGE-like syndrome, expressed variably across a family of two brothers, their mother and their maternal uncle. Members of the family showed many CHARGE features but notably lacked choanal atresia, and the brothers had typical genital development. Because the disorder was recognized relatively recently, its cause is not fully known, but it is understood to arise from mutations in the TBX22 gene on the X chromosome and is inherited in an X-linked recessive manner. No cure is known, though the symptoms can be treated.