Fountain syndrome
MeSH: C537270ORPHA: 3219
Overview
extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Fountain syndrome, sourced from HPO and Orphanet clinical annotations.
Thick lower lip vermilionCoarse facial featuresFacial edemaRound faceSensorineural hearing impairmentBrachydactylyIntellectual disabilityCraniofacial hyperostosisWide mouthEverted lower lip vermilionFull cheeksHyperextensible skinSubcutaneous noduleEEG abnormalityMidface retrusionAbnormal palate morphologyGingival overgrowthMacrocephalyLong faceEpicanthusHypertelorismVisual impairmentPtosisMyopiaThick eyebrowSynophrysPectus excavatumCutis marmorataLarge handsSeizureAbnormal foot morphologyAbnormal speech patternSpina bifidaScoliosisKyphosisSpina bifida occultaAbnormal form of the vertebral bodiesShort statureShort distal phalanx of fingerErythemaMetaphyseal dysplasiaCoarse metaphyseal trabecularizationPapuleAbnormal metacarpal morphology
Classification & Codes
MeSH Code
C537270Orphanet Code
ORPHA:3219Fountain syndrome
| MeSH | C537270 |
| Orphanet | ORPHA:3219 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO