emanuel syndrome is characterized by multiple congenital anomalies and developmental disability it is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22 the origin of this imbalance is 3 1 malsegregation of a parental balanced translocation between chromosomes 11 and 22 which is the most common recurrent reciprocal translocation in humans little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited we designed a questionnaire to collect information from families recruited through an international online support group chromosome 22 central data gathered include information on congenital anomalies medical and surgical history developmental and behavioral issues and current abilities we received information on 63 individuals with emanuel syndrome ranging in age from newborn to adulthood as previously recognized congenital anomalies were common the most frequent being ear pits 76 micrognathia 60 heart malformations 57 and cleft palate 54 our data suggest that vision and hearing impairment seizures failure to thrive and recurrent infections particularly otitis media are common in this syndrome psychomotor development is uniformly delayed however the majority of individuals over 70 eventually learn to walk with support language development and ability for self care are also very impaired this study provides new information on the clinical spectrum and natural history of emanuel syndrome for families and physicians caring for these individuals.