Stickler syndrome

Orpha code: 828OMIM code: 614284

Definition

A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

Disease data
Classification

Disease

Synonyms
Hereditary progressive arthroophthalmopathy
Dziedziczna postępująca artrooftalmopatia
ORPHA code
828
OMIM code
614284
ICD10 code
Q87.0
ICD11 code
LD2F.1Y

No additional description.

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