Growth And Developmental Retardation, Ocular Ptosis, Cardiac Defect, And Anal Atresia

Clinical Features

Zampino et al. (2000) described a 1-year-old girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and atresia. They pointed to a similar condition that had been reported by Wiedemann (1985) and concluded that, although similar to Ohdo syndrome (249620), these cases appeared to represent a distinct clinical entity. Based on the principal clinical manifestations, Zampino et al. (2000) proposed that the disorder should be labeled with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).