Fountain syndrome
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 April 2024
Newly diagnosed with
Fountain syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.