Fountain Syndrome

Clinical Features

Fountain (1974) reported 3 brothers and a sister with mental retardation, deafness, and skeletal abnormalities. Two of them developed progressive swelling of the lips and in 1 of them an eroded granulomatous mass appeared in the lower lip.

Fryns et al. (1987) described the same disorder in 3 moderately to severely mentally retarded males: 2 brothers and an isolated patient. One of the patients of Fountain (1974) also had spina bifida. The deafness was sensorineural in type; tomography showed congenital anomalies of the cochlea. Edematous facial changes similar to those of the Melkersson-Rosenthal syndrome (155900), an autosomal dominant, are seen. The skeletal changes consisted mainly of marked thickening of the calvaria and short stubby hands with broad terminal phalanges.

Fryns (1989) reviewed the disorder.

Van Buggenhout et al. (1996) described a 50-year-old man and an unrelated 17-year-old boy who had features consistent with Fountain syndrome, including mental retardation, sensorineural deafness, coarse facies with thick lips, and broad, plump hands. The authors also reexamined the 3 patients with Fountain syndrome previously reported by Fryns et al. (1987), observing that all 5 patients had remarkably friendly behavior. Van Buggenhout et al. (1996) proposed that epilepsy, short stature, large head circumference, and broad, plump hands are accessory features of the syndrome, and noted that the clinical picture becomes more clear with advancing age, with extreme coarsening of the face and severe hearing impairment.

Inheritance

Fryns (1989) noted that the occurrence in sibs with normal parents suggested autosomal recessive inheritance.