Also known as: Hereditary Progressive Arthro-ophthalmopathy
Stickler syndrome is a genetic condition that affects connective tissue. Its main effects are on the eyes, joints, hearing and palate (roof of the mouth), although there are sub-groups that do not have effects in all of these areas.
Last updated November 2016 by Mr MP Snead, Consultant Vitreoretinal Surgeon and Lead for NHS England Stickler Syndrome Diagnostic Service , Addenbrookes Hospital, Cambridge, UK
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Individuals affected by Stickler syndrome may have:
Ocular (eye) problems
- Myopia (short-sightedness) – children can see better at short distances than long and are born with this (known as congenital myopia).
- Retinal detachment – sometimes a tear or a hole can appear in the retina and water from within the eye can leak down behind the retina causing it to come away from the back of the eye.
- Cataract (cloudiness of the eye lens). A specific shape of cataract called a wedge or quadrantic lamellar cataract is often seen in Stickler syndrome.
- Hypermobility (looseness and overflexibility of joints).
- Stiffness and premature arthritis.
- Prominent joints – joints that are more visible than normal.
- Widening of the ends of long bones (bones are those that are longer than they are wide, such as the tibia and the femur). This feature may only be evident on X-ray and many patients with Stickler syndrome have no detectable abnormality on X-ray
Specific facial features
- Cleft or high arch to the palate (see entry Cleft Lip and/or Palate)
- Mid-facial hypoplasia (“Flat” middle of the face).
- Micrognathia (undersized jaw).
A mutation (change) in any one of several genes that control and direct collagen synthesis may cause Stickler syndrome. So far, 8 types of Stickler syndrome have been identified, each with their own features.
Diagnosis is based on clinical examination with confirmation by DNA molecular genetic analysis.
There is no cure for Stickler syndrome, but early diagnosis and preventative surgery can substantially reduce the risk of blindness from retinal detachment. However, retinal detachment, if it occurs, can be repaired surgically. Regular checks by an eye specialist are vital to maintain and preserve sight. Spectacles or contact lenses can usually sharpen vision. Sometimes the vision will not be perfect, which can be because of other problems with the eye, such as cataract. Clefting of the palate can be repaired surgically and consultation with a specialist cleft palate service will be required. Physiotherapy to reduce pain and improve muscle strength may be necessary for relieving the symptoms of hypermobility.
Inheritance is usually autosomal dominant or rarely recessive. Sporadic (new) cases are well recognised.
Pre-implantation genetic diagnosis (PIGD) is now feasible. Ultrasound screening may identify cleft palate, which can indicate the condition.
Stickler Syndrome UK
The Group is a Registered Charity in England and Wales No. 1060421. It offers support and information for families, teachers and healthcare professionals. The Group publishes a newsletter and is in touch with about 500 families in the UK and abroad.
Group details last updated November 2016.