What is Stickler Syndrome?

Stickler syndrome (SS) is a hereditary progressive disease affecting multiple parts of your body, including the eyes, face, ears, heart, bones and joints. SS is caused by a gene mutation which affects the formation of collagen, the main component of all connective tissue in the body. Some connective tissue acts like a glue for binding, in other areas it has a supporting function, and can also allow for the elastic stretching and tightening, especially in the muscles. Collagen is also an important component of the cartilage which covers the bone ends of the joints. In the eye it is found in the sclera, cornea and vitreous humour.

SS is described as the most common connective tissue disorder with a prevalence of 1 in 10,000 however the true prevalence may be considerably higher as it is under-diagnosed due to the variability in symptoms.

The benefits of The Bambach for Stickler Syndrome

• The hip joint is its position of maximal joint surface contact (closed pack position).
• Focus on pelvic control maintains an upright stable pelvis in its neutral position. In this position the spine, shoulder girdle, trunk, head and neck can function in their most stable position.
• Limbs are in a mid-range position which can minimise abnormal tone.
• A clear midline assists balance and symmetry.
• The individual sitting upright is in an active dynamic posture rather than a passive collapsed position.
• Partial weight bearing can be encouraged through to standing from a half-sitting position.
• Dynamic sitting facilitates muscle activity which ensures the stimulation of normal and symmetrical growth of bone and soft tissue.
• Facilitation of independence in sitting and other motor activities.
• Trunk and head control are easier in the natural position so that functional activities, such as swallowing and speech are improved.
• Thoracic, abdominal and pelvic spaces are maximized resulting in improved lung and internal organ function and circulation.
• With the upper body stable and free to move in this upright posture, eye contact, communication and social interaction are a great deal easier.
• Self care activities, such as meals, washing and dressing, writing, computer work, hobbies and playing games, are also more easily performed.

Problems associated with Stickler Syndrome

The following symptoms are common in children with SS:

• Hearing loss
• Myopia (nearsightedness) - children with SS are often born with severe myopia
• Altered facial features- children with SS will present with a flattened facial profile with a small nose and absent or slight nasal bridge
• Musculoskeletal and joint problems- patients often complain of stiff joint or hyper mobile joints (over flexible joints), particularly at the fingers, hips and ankles. This then leads to an increased risk of developing osteoarthritis (OA) in the joints as early as the teen years
• Spinal deformity is common in children with SS, in particular kyphosis (curvature of the upper spine) and scoliosis (lateral curvature of the spine)