Living with Fountain syndrome
An extremely rare genetic condition with intellectual disability, deafness, bone differences and coarse facial features.
Understanding Fountain syndrome
It includes intellectual disability, deafness, skeletal differences, and coarse facial features. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Hearing loss (sensorineural)
- Coarse facial features
- Thick lower lip and wide mouth
- Short fingers or toes
- Firm lumps under the skin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: deafness with skeletal dysplasia and lip granuloma syndrome; deafness-skeletal dysplasia-coarse face with full lips syndrome; deafness-skeletal dysplasia-lip granuloma syndrome; deafness, skeletal dysplasia, coarse face with full lips syndrome; hearing loss-skeletal dysplasia-coarse face with full lips syndrome; hearing loss-skeletal dysplasia-lip granuloma syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fountain syndrome.
Explore research for Fountain syndrome
Explore actively recruiting Fountain syndrome studies with HealthSpark.
Find actively recruiting studies for Fountain syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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