Abstract
Stickler syndrome (STL) is a progressive multisystemic disorder of connective tissue with an incidence of 1:7,500 newborns, which is probably underestimated due to its considerable clinical and genetic heterogeneity. STL symptoms include cleft palate or the Pierre-Robin sequence, hearing and/ or vision impairment, namely early high myopia and spontaneous retinal detachment, skeletal dysplasia, and a characteristic facial appearance, including a flat profile, protruding eyes, and micrognathia.
STL symptoms show high inter- and even intrafamilial phenotypical variability. Variants in seven different collagen genes can cause STL.
Autosomal dominant (AD) type 1 caused by a defect in the COL2A1 gene is the most common form of STL (80-90%); AD type 2 (involving COL11A1 gene defects) is much less common (10-20%). The third AD type and all autosomal recessive types are extremely rare.
A genetically confirmed diagnosis of STL facilitates early treatment, prevention, and an accurate genetic risk estimation of STL in the family.