Fountain syndrome

MONDO:0009241

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

Also known as: deafness-skeletal dysplasia-coarse face with full lips syndrome, deafness-skeletal dysplasia-lip granuloma syndrome, fountain syndrome, deafness, skeletal dysplasia, lip granuloma, intellectual disability, deafness, skeletal abnormalities, coarse face with full lips, intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips, mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips

0 clinical trials for this condition and its sub-types, 0 tagged with Fountain syndrome itself.

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Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Fountain syndrome (0)

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