Stickler syndrome
Definition
Stickler syndrome is a disorder caused by a genetic malfunction in the tissue that connects bones, heart, eyes, and ears.
Description
Stickler syndrome, also known as hereditary arthroophthalmopathy, is a multisystem disorder that can affect the eyes and ears, skeleton and joints, and craniofacies. Symptoms may include myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate; and mild spondyloepiphyseal dysplasia and/or arthritis. The collection of specific symptoms that make up the syndrome were first documented by Stickler et al.,...
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