Stickler Syndrome Causes, Symptoms, Diagnosis And Treatment

Stickler Syndrome

What Is Stickler Syndrome?

Stickler syndrome refers to a group of genetic disorders of connective tissue.

The specific symptoms present in Stickler syndrome often vary greatly from one individual to another.

Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.

While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications.

Cause Of Stickler Syndrome:

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 a person with the syndrome has a 50% chance of passing it on to each child.

Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome. These genes are involved in the production of type II and type XI collagen.

Symptoms Of Stickler Syndrome:

The severity and the occurrence of symptoms of stickler syndrome vary from person to person.

The following symptoms may be exhibited:

  • Eye problems.
  1. Myopia (nearsightedness)
  2. Cataracts
  3. Glaucoma
  4. Retinal detachment
  • Hearing difficulties.
  • Inability to hear high frequencies.
  • Bone and joint abnormalities.
  1. abnormal curvatures of the spine,
  2. Scoliosis
  3. Osteoarthritis
  4. vertebrae abnormality
  5. joint pain
  6. double jointedness
  • Flattened facial expression
  • Pierre Robin sequence
  • a U-shaped or sometimes V-shaped cleft palate
  • Large tongue
  • small lower jaw
  • flat cheeks
  • flat nasal bridge
  • small upper jaw
  • pronounced upper lip groove,
  • small lower jaw
  • palate abnormalities

Diagnosis Of Stickler Syndrome:

Stickler syndrome is diagnosed through a medical history and physical examination conducted by the doctor.

In order to confirm diagnoses, the following tests may be conducted:

  • Imaging tests
  • X-rays
  • Hearing tests
  • Eye exam

Treatment Of Stickler Syndrome:

There is no cure for stickler syndrome. Treatment available aims to reduce the signs and symptoms.

The following treatment is available:

  • Medication
  • Pain relievers
  • ibuprofen (Advil, Motrin IB)
  • naproxen (Aleve)
  • Glaucoma drugs
  • Therapy
  • Speech therapy
  • Physical therapy
  • Hearing aids
  • Special education
  • Surgery
  • Tracheostomy
  • Jaw surgery
  • Cleft palate repair
  • Ear tubes
  • Eye surgeries
  • Joint replacement

By : Natural Health News