Hearing Outcomes in Stickler Syndrome: Variation Due to and .

Objectives: Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder, often due to a mutation in or . Mutations in these genes cause collagen abnormalities affecting ocular, auditory, orofacial, and skeletal systems, including hearing loss, micrognathia, and cleft palate. Understanding the variability of hearing phenotypes based on genetic mutation has a significant impact on treatment and long-term care.

Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.

Objective: To determine whether the two most common genetic mutations seen in Stickler Syndrome (SS) (COL2A1 and COL11A1) affect the incidence of mandibular distraction osteogenesis (MDO) and what impact Robin sequence (RS) has on diagnosis. SS is an autosomal dominant connective tissue disorder characterized by almost complete penetrance. COL2A1 and COL11A1 are the two most common mutations seen in SS patients.