Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy). Stickler Syndrome Type 3 (STL3) is a rare form.
Synonym: oto-spondylo-megaepiphyseal dysplasia (OSMED)
Chromosome: 6p21.3
Gene: COL11A2
Product: Collagen XI
Inheritance: autosomal dominant
Clinical manifestations:
(1) craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip)
(2) cleft palate
(3) Pierre Robin sequence
(4) sensorineural hearing loss
(5) absence of ocular abnormalities
(6) early onset, atypical osteoarthritis
(7) spondyloepiphyseal dysplasia
