Stickler syndrome

The Stickler syndrome (hereditary progressive arthro- ophthalmopathy ) belongs to a group of genetic disorders that affect connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, type II and XI. It is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint diseases. It was first described by Gunnar B. Stickler in 1965.

Symptoms

The symptoms of Stickler syndrome vary greatly among affected.

Face changes

A characteristic feature of Stickler syndrome are somewhat flattened facial features, which are caused by underdeveloped midface bone including the cheeks and bridge of the nose.

Dental findings

Some of the symptoms of Pierre Robin sequence occurs frequently in people with Stickler syndrome. It is characterized by three symptoms

• To a small lower jaw with receding chin retrusion
• A displaced into the throat, usually enlarged tongue macroglossia with partial obstruction of the airways glossoptosis
• A U-shaped cleft palate in 60 % to 80 % of cases

These findings can lead to problems with feeding and breathing difficulties.

Eye findings

Many people with Stickler syndrome have severe nearsightedness (myopia). In some cases there is a clouding of the lens of the eye ( cataracts) or retinal detachment. Other eye problems are an increased pressure in the eye ( glaucoma). These eye abnormalities can lead to impaired vision or in some cases blindness.

ENT findings

Another feature of the Stickler syndrome is a hearing loss. The degree of hearing loss varies among affected people and can worsen over time yet.

Orthopedic findings

Most people with Stickler syndrome have malformations of the skeleton, particularly the joints are concern. The joints of the affected children and young adults are hypermobile. Patients often suffer early arthritis that can cause joint pain or stiffness. Spinal problems can also occur, including an abnormal curvature of the spine ( scoliosis or kyphosis ) and flattened vertebrae ( platyspondyly ). These spinal abnormalities may also cause back pain.

Internistische findings

Occasionally, a mitral valve prolapse is diagnosed, the mostly caused no problems and therefore requires no therapy.

Classification

Stickler syndrome is divided into five different types. In particular, the eye abnormalities and the severity of hearing loss among the five types differ. Type I has the highest risk of retinal detachment. Type II also eye malformations, type III are not. Type II and III are similar to type I, but more associated with hearing loss. Types IV and V are very rare and have been diagnosed in only a few individuals.

Differential Diagnosis

The Marshall syndrome is a similar hereditary disease and is also characterized by distinctive facial features, eye abnormalities, hearing loss and early onset arthritis. When Marshall syndrome can also dwarfism occur in contrast to Stickler syndrome. It is assumed that the Marshall syndrome is not a variant of Stickler syndrome, but classified as a separate disorder.

Genetic causes

Mutations of the genes COL2A1, COL11A1, COL11A2, COL9A1 and COL9A2 cause the Stickler syndrome type I to V. For the Marshall syndrome mutations in COL11A1 be held responsible.

Epidemiology

The Stickler syndrome is to be the most common syndrome in the United States and in Europe, but which is diagnosed on the rarest. Most sufferers have such mild symptoms that the disease is not diagnosed. It is believed that at about 7500-9000 births comes around a disease.