Which are the symptoms of Stickler syndrome?

Stickler syndrome is a rare genetic disorder that primarily affects the connective tissues in the body. It is characterized by a wide range of symptoms that can vary in severity from person to person. The syndrome is caused by mutations in certain genes that are responsible for the production of collagen, a protein that provides strength and support to various tissues in the body.

1. Facial Features: One of the most noticeable symptoms of Stickler syndrome is distinctive facial features. Individuals with this condition may have a flat facial profile, a small nose, a cleft palate, and a small jaw. These facial characteristics can vary in severity and may become more apparent with age.

2. Vision Problems: Stickler syndrome commonly affects the eyes, leading to a range of vision problems. The most common eye-related symptom is myopia, or nearsightedness, which can be mild to severe. Other eye issues may include retinal detachment, cataracts, glaucoma, and a condition called vitreoretinal degeneration, which can cause floaters and decreased visual acuity.

3. Hearing Loss: Another prominent symptom of Stickler syndrome is hearing loss. This can be due to abnormalities in the middle ear, such as malformation of the tiny bones (ossicles) or a thickening of the eardrum. The severity of hearing loss can vary, ranging from mild to profound, and may worsen over time.

4. Joint Problems: Stickler syndrome can affect the joints, leading to various issues. Individuals with this condition may experience joint pain, stiffness, and hypermobility. The joints may be prone to dislocation or develop early-onset osteoarthritis. These joint problems can significantly impact mobility and quality of life.

5. Skeletal Abnormalities: Some individuals with Stickler syndrome may exhibit skeletal abnormalities. These can include a curved spine (scoliosis), abnormal curvature of the fingers (clinodactyly), and a flattened or irregularly shaped vertebrae (platyspondyly). These skeletal issues can cause discomfort and may require medical intervention.

6. Dental Problems: Dental abnormalities are common in Stickler syndrome. These can include a cleft palate, a high-arched palate, and crowded or misaligned teeth. Dental issues may require orthodontic treatment and regular dental care to maintain oral health.

7. Developmental Delays: Some individuals with Stickler syndrome may experience developmental delays, particularly in speech and motor skills. These delays can vary in severity and may require early intervention and specialized therapies to support optimal development.

8. Other Symptoms: Stickler syndrome can also present with other less common symptoms. These may include heart abnormalities, such as mitral valve prolapse or aortic dilation, as well as gastrointestinal issues like acid reflux or constipation. Some individuals may also have a higher risk of developing certain types of cancer, although this association is not fully understood.

It is important to note that the symptoms of Stickler syndrome can vary widely among affected individuals. Some individuals may experience only a few mild symptoms, while others may have more severe manifestations. Additionally, the age of onset and progression of symptoms can also differ. Therefore, a comprehensive evaluation by a medical professional, including genetic testing, is necessary for an accurate diagnosis.