Stickler syndrome

Orpha code: 828OMIM code: 614284

Definicja

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
Klasyfikacja

Disease

Synonimy
Hereditary progressive arthroophthalmopathy
Kod ORPHA
828
Kod OMIM
614284
Kod ICD10
Q87.0
Kod ICD11
LD2F.1Y

No additional description.

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