Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear 
anomalies, heart defects, genital anomalies, hypotonia, and mental retardation 
are the main features of the syndrome. We report a nine-year-old boy with the 
t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his 
mother, and originated in the maternal grandmother's meiosis. In addition to 
mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he 
has novel findings such as, joint hyperextensibility, left liver lobe agenesis, 
left sided malposition of the gallbladder and pancreas hypoplasia. This is the 
first report associating these features with Emanuel syndrome.