Fountain syndrome is an extremely rare inherited disorder that is characterized by mental retardation; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea) within the inner ear. Fountain syndrome is inherited as an autosomal recessive trait.
Fountain syndrome is an extremely rare inherited disorder. In all cases reported in the medical literature, affected individuals have exhibited mild to severe mental retardation.
Individuals with Fountain syndrome may also exhibit several physical abnormalities. For example, fluid may abnormally accumulate under the skin (edema) of the face, especially the lips and cheeks. As a result, the face may appear coarse, abnormally “full,” and swollen.
Fountain syndrome may also be characterized by deafness at birth (congenital deafness) due to a defect in a bony spiral organ in the inner ear (cochlea). In this type of deafness, although sound is transmitted normally through the external and middle ear, the cochlear malformation in the inner ear causes the hearing loss (congenital sensorineural deafness). The cochlea normally transforms sound vibrations into nerve impulses that are transmitted to the brain. Because congenital sensorineural deafness results in an inability to hear spoken language, affected infants and children may be unable to develop and comprehend verbal language structure, resulting in an inability to communicate through speech (deaf mutism).
Individuals with Fountain Syndrome may also have skeletal abnormalities including abnormal thickening of the cap of the skull (calvaria) and/or unusually broad, short, and stubby hands and feet. In addition, in some cases, affected individuals may exhibit extreme front-to-back curvature of the spine (hyperkyphosis) and/or short stature.
In some cases, individuals with Fountain syndrome may exhibit additional physical abnormalities. For example, during infancy, some individuals may experience episodes of repeated, uncontrolled electrical disturbances involving both sides of the brain (generalized seizures), short stature, an abnormally large head circumference (macrocephaly), and broad, plump hands.
Fountain syndrome is as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Fountain Syndrome is an extremely rare inherited disorder that is believed to affect males and females in equal numbers. However, of the seven cases reported in the medical literature, six affected individuals were male and one was female. Reported cases include three brothers and one sister from one family, two brothers from another, and one male from a third family. Sensorineural deafness associated with Fountain Syndrome may be apparent at birth (congenital). Additional symptoms and physical characteristics that may be associated with the disorder usually become apparent during infancy or early childhood.
Fountain syndrome is usually diagnosed during infancy or early childhood, based upon a thorough clinical evaluation, characteristic physical findings, and a variety of specialized tests. For example, various audiological tests may be conducted to help assess the nature of the hearing loss, and an X-ray scanning procedure (computerized tomography or CT scan) may be performed to confirm inner ear (i.e., cochlear) malformation as the cause of sensorineural deafness in individuals with Fountain syndrome. During such CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of the structures of the inner ear. X-ray studies may also be used to confirm the presence of certain skeletal abnormalities suspected during clinical observation.
If affected infants experience seizures, a complete neurological evaluation may be conducted including electroencephalography (EEG) and CT scanning. During an EEG, the brain's electrical impulses are recorded; such studies may reveal brain wave patterns that are characteristic of certain types of seizures. CT scanning may be used to create cross-sectional images of the brain's tissue structure.
The treatment of Fountain syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the efforts of a team of specialists working together to systematically and comprehensively plan an affected child's treatment. Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); specialists who assess and treat hearing problems (audiologists); those who specialize in abnormalities of speech and language development (speech-language pathologists); specialists who diagnose and treat skeletal disorders (orthopedists); neurologists; physical therapists; surgeons; and/or other health care professionals.
Specific therapies for the treatment of Fountain syndrome are symptomatic and supportive. In some cases, various orthopedic techniques may be used to help treat and/or correct skeletal abnormalities associated with Fountain syndrome. For example, extreme front-to-back curvature of the spine (hyperkyphosis) may be treated with a combination of exercises and physical therapy, other supportive techniques, braces, and/or casts.
For individuals with Fountain syndrome who experience generalized infantile seizures, anticonvulsant drug therapy may be prescribed to help prevent, reduce, or control such seizures.
Early intervention is important in ensuring that children with Fountain Syndrome reach their potential. Services that may be beneficial may include special remedial education, special services for children with congenital sensorineural deafness and mutism, and other medical, social, and/or vocational services.
Genetic counseling may also be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
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