Fountain syndrome, which is characterized by an association between mental retardation, sensorineural deafness, coarse facies, and skeletal abnormalities, was first described in 1974. Fountain syndrome is an extremely rare disorder, and the prevalence is unknown. Only seven cases have been documented at this time. The occurrence of this syndrome in siblings of normal parents indicates autosomal recessive inheritance.
A rare autosomal recessive syndrome characterized by mental retardation, short and stubby fingers and toes, a swollen appearance of the cheeks and lips, and, frequently, seizures, short stature, and a large cranial circumference.