Fountain syndrome

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Synonyms: Deafness-skeletal dysplasia-coarse face with full lips syndrome | Deafness-skeletal dysplasia-lip granuloma syndrome | Hearing loss-skeletal dysplasia-coarse face with full lips syndrome | Hearing loss-skeletal dysplasia-lip granuloma syndrome

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

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Fountain syndrome?

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