Stickler syndrome
ORPHA:828· ICD-10 Q87.0
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.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal