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Fountain syndrome

Orpha number ORPHA3219
Synonym(s) Deafness - skeletal dysplasia - coarse face with full lips
Deafness - skeletal dysplasia - lip granuloma
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C0795944
MeSH
  • C537270
MedDRA -

Summary

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.

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.

The pattern of inheritance appears to be autosomal recessive.

Expert reviewer(s)

  • Pr Griet VAN BUGGENHOUT

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