Diseases title

Abruzzo-Erickson syndrome )

Orpha Number: 921
Cleft palate - coloboma - deafness

Abruzzo-Erickson syndrome is characterised by the combination of cleft palate, coloboma, hydrospadias, large and protruding ears with deafness, short stature and humero-radial synostosis. It has been described four patients from one family (two brothers, their mother and a maternal uncle). Clinical expression varied between family members. Wide spacing between the second and third fingers, as well as unilateral or bilateral radioulnar synostosis was noted in several members of the family. The brothers (aged 19 and 16) were below the fifth percentile for height. Mental retardation was not present. The syndrome was considered CHARGE-like because none of the patients had choanal atresia, both brothers had coronal hypospadias but genital development was otherwise normal, and the mother had large ears and flat malar configuration, wide spacing between the second and third digits, as well as an unusual rugosity of the palate. An X-linked recessive mode of inheritance has been proposed for this syndrome. Patients were given a hearing aid to combat the hearing impairment
source: Orphanet