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Fountain syndrome

Synonym(s) Deafness-skeletal dysplasia-coarse face with full lips syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.8
  • C0795944
  • C537270
MedDRA -


Disease definition

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.


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).


The etiology of Fountain syndrome has not been elucidated.

Genetic counseling

The pattern of inheritance appears to be autosomal recessive.

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