Stickler Syndrome

1 What is Stickler Syndrome?

Stickler syndrome is also known as hereditary progressive arthro-opthalmopathy. It is a genetically inherited disorder affecting connective tissue like collagen.

It is characterized by peculiar facial problems, ocular issues, hearing loss and joint problems. Four genetic variants of the disease have been identified.

2 Symptoms

A characteristic symptom of Stickler Syndrome is flattened facial appearance due to maldeveloped facial bones.  A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. 

Robin sequence includes a U-shaped or sometimes V-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to ear infections and occasionally swallowing difficulties.

Many people have high myopia because of abnormalities in the shape of eye ball which inturn leads to glaucoma and ocular hypertension or retinal detachment. Cataract may also be present as a complication. Regular visit to your ophthalmologist is recommended.

Arthritis, vertebral abnormalities, double jointedness, scoliosis, and a lot of other problems in joints. They have a particular flattened facial appearance, small jaw, palate abnormalities and like.

They have mild to severe progressive hearing loss. The joints of affected individual can be hypermobile. 

Some studies suggest that there is increased incidence of mitral valve prolapsed in such patients.

Additional findings may occur in some cases including diminished muscle tone

(hypotonia), abnormally long, slender fingers (arachnodactyly), flat feet (pes planus), and osteochondritis deformans of the hips (Legg-Calve-Perthes disease), a degenerative hip disorder with childhood onset.

3 Causes

Stickler syndrome is thought to be caused from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning a person with the syndrome has a 50% chance of passing it on to each child. 

There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. 

The responsible genes identified include COL11A1, COL11A2 and COL2A1 genes.

4 Making a Diagnosis

Diagnosis of Stickler syndrome is based on clinical history, physical examination and looking for characteristic features of the disease.

A variety of eye examinations, genetic testing, and x-ray studies may be used to detect any abnormalities associated with the disease.

5 Treatment

Symptom based treatment of Stickler syndrome is recommended for the patients.

Treatment may require the coordinated efforts of a team of specialists including:

  • geneticist,
  • pediatrician and/or internist,
  • orthopedic surgeon,
  • rheumatologist,
  • ophthalmologist and retina specialist,
  • otolaryngologist,
  • audiologist,
  • plastic surgeon,
  • orthodontist,
  • other healthcare professionals.

6 Prevention

There is no way to prevent Stickler disease.

The disease should be recognized as early as possible to allow for  timely action taken against complications. Patients with ocular form of disease should avoid contact sports to prevent the risk of retinal detachment

Corrective lenses are prescribed to myopics. Tracheostomy may be required to prevent breathing difficulties. Orthodenture may be required to correct dental mal alignment. 

Hearing aids are prescribed to people with hearing impairment. Physical therapy may prove beneficial in some cases.

Special education and other services may be helpful for children with learning disabilities due to hearing or vision problems.

Genetic counseling may be of benefit for affected individuals and their families.

7 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with Stickler syndrome.

It is one of the most common connective tissue diseases in US. It is purely a genetic trait.

Affected individuals may require genetic counseling and learn to live with the disease with proper aids.

Also those at risk should identify the disease earlier.

8 Risks and Complications

Potential complications of Sticklers Syndrome include:

  • Difficult breathing and feeding,
  • blindness,
  • ear infections,
  • dental problems,
  • heart problems,
  • deafness.

9 Related Clinical Trials