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.