fountain syndrome
MONDO:0009241Mondo
Findings
No curated finding names fountain syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
Definition from the Mondo Disease Ontology (MONDO:0009241), read 2026-09-29. CC BY 4.0.
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Facial edemaHPOHP:0000282
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Thick lower lip vermilionHPOHP:0000179
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- Hyperextensible skinHPOHP:0000974
- Frequent (30% to 79% of cases)
Show the remaining 32
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Subcutaneous noduleHPOHP:0001482
- Frequent (30% to 79% of cases)
- Wide mouthHPOHP:0000154
- Frequent (30% to 79% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Occasional (5% to 29% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Occasional (5% to 29% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: fountain syndrome
- Also called
- deafness-skeletal dysplasia-coarse face with full lips syndromedeafness-skeletal dysplasia-lip granuloma syndrome