Sticklers Syndrome is an inherited connective tissue disorder first studied and characterised by Dr. G.B. Stickler in 1965 whilst working at Mayo clinic.
Causes
The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning person with the syndrome has a 50% chance of passing it on to each child.
Symptoms
The syndrome describes a range of problems all involved with a sufferers connective tissue. The degree to which any or all of these symptoms are present varies from patient to patient.
- Characteristic facial features including some degree of cleft palate, a small jaw and a flat face. Speech difficulties often arise from small jaw and cleft palate.
- Skeletal abnormalities and joint pain. Hyperextensible joints.
- Deafness.
- Eye problems. Usually significant myopia (short sight). In later life other eye problems including retinal detachment and blindness often arise.
- Mitral valve failure.
External links
www.sticklers.org: a support organisation
