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Fountain syndrome
Disease definition
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
ORPHA:3219
Summary
Epidemiology
The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described.
Clinical description
The main clinical features of Fountain syndrome include moderate to severe intellectual deficit, congenital sensorineural hearing impairment, and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. Additional reported signs are early-onset, generalized seizures, short stature, large head circumference, and remarkable behavior (friendly demeanor).
Etiology
The etiology of Fountain syndrome has not been elucidated.
Genetic counseling
The pattern of inheritance appears to be autosomal recessive.
Additional information