David-Stickler syndrome, also known as Stickler syndrome type II or hereditary progressive arthro-ophthalmopathy, is a rare genetic disorder that affects the connective tissues in the body. It is part of a group of genetic disorders known as collagenopathies, which affect the synthesis or structure of collagen, a protein that is found in many tissues throughout the body.
The syndrome was first described by David and Stickler in 1963, who reported four patients with congenital arthro-ophthalmopathy, a condition characterized by abnormalities in the joints and eyes. Later, it was recognized that these patients had other features that were consistent with Stickler syndrome, which was first described in 1965 by Stickler et al.
David-Stickler syndrome is caused by mutations in the COL11A1 gene, which provides instructions for making a protein called type XI collagen. This collagen is important for the formation of cartilage and other connective tissues in the body, including those in the eyes, ears, and joints. Mutations in the COL11A1 gene disrupt the production or structure of type XI collagen, leading to the signs and symptoms of David-Stickler syndrome.
The signs and symptoms of David-Stickler syndrome can vary widely, even among individuals with the same mutation. The most common features of the syndrome include a distinctive facial appearance with a small chin, flat midface, and prominent forehead, as well as hearing loss and abnormalities in the eyes, such as cataracts, glaucoma, or retinal detachment. Individuals with the syndrome may also have joint problems, including hypermobility, arthritis, or scoliosis, and may experience early-onset osteoarthritis.
Diagnosis of David-Stickler syndrome is based on clinical evaluation, including physical examination and medical history, as well as genetic testing to identify mutations in the COL11A1 gene. Prenatal diagnosis is also possible through chorionic villus sampling or amniocentesis.
Treatment of David-Stickler syndrome is symptomatic and may involve a team of healthcare professionals, including ophthalmologists, audiologists, genetic counselors, and orthopedic surgeons. Treatment may include corrective eyewear or surgery for eye problems, hearing aids or cochlear implants for hearing loss, and physical therapy or surgery for joint problems. In some cases, surgical intervention may be necessary to correct craniofacial abnormalities or spinal curvature.
Overall, the prognosis for individuals with David-Stickler syndrome depends on the severity and progression of their symptoms. While the syndrome can be associated with significant morbidity and disability, with appropriate management and treatment, many individuals with the syndrome are able to lead fulfilling lives.