fountain syndrome

Rare Disease

MONDO:0009241

Also Known As

deafness-skeletal dysplasia-coarse face with full lips syndromedeafness-skeletal dysplasia-lip granuloma syndromefountain syndromedeafness, skeletal dysplasia, lip granulomaintellectual disability, deafness, skeletal abnormalities, coarse face with full lipsintellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lipsmental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips

Definition

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