Stickler Syndrome

Stickler syndrome is an abnormal condition that causes severe problems in various parts of the body such as eyes, ears and joints. It is also called ‘hereditary progressive arthro-ophthalmopathy’ and is usually diagnosed during infancy.

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Children who are affected by this syndrome show unique facial features like a small nose, big eyes and a receding chin. If the jaw is small and tongue’s movements are limited, then it leads to difficulties in breathing and feeding during childhood.

No proper cure is known for the condition, still treatments help to minimize the symptoms, control it, and prevent further complications. In few cases, surgeries are required to correct some physical abnormalities.


The symptoms of Stickler syndrome differ from person to person. Some common signs and symptoms are:

  • Unique facial features: A child suffering from this syndrome has a flat facial structure with a tiny nose and a nasal bridge that may be dug in or even. The chin is small. However, as the child grows changes occur making these features appear less unique to some extent.
  • Pierre Robin sequence: Stickler syndrome causes ‘Pierre Robin sequence.’ Pierre Robin sequence is a mixture of birth deficiencies which includes a tiny jaw, difficulty in tongue movements, and a tongue that moves in the reverse direction toward the throat. All this leads to various problems in breathing and feeding.
  • Hearing difficulties: The capability to listen to high frequencies is affected and it worsens with time. However, the severity of loss of hearing differs from one affected person to another.
  • Bone and joint defects include:
    •     Osteoarthritis: Early arthritis is generally seen in Stickler syndrome
    •     Scoliosis: Affected children may occasionally suffer from scoliosis. A growing child has to be carefully observed for occurrence of scoliosis so that prompt treatment can be given when necessary.
    •     Increased joint flexibility: A common symptom of Stickler syndrome is that an affected child can often extend the joints beyond the usual range of motion, easily and without pain. This ability tends to lessen with age.
  • Eye problems: Children suffering from Stickler syndrome usually have ocular disorders. It is more common amongst older adults.
    • Glaucoma: It increases the pressure in the eye and at times it is so severe that it damages the optic nerve.
    • Extreme near-sightedness: Children may be born with nearsightedness. It is an eye defect wherein close objects are visible clearly but distant objects appear blurry.
    • Retinal detachments: Children with this syndrome suffer from retinal detachments. The retina is necessary for seeing, so blindness can occur if it ripsapart from the backside of the eyeball.
    • Cataract: Some children with Stickler syndrome may be born with cataracts. These cataracts may also form during infancy.

Some of the complications caused by Stickler syndrome include:

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  • Ear infections
  • Blindness
  • Difficulty in breathing or feeding
  • Heart and dental problems
  • Deafness


The main cause for Stickler syndrome is change in some of the genes involved in the development of a group of proteins known as ‘collagen.’ Collagen is responsible for providing the foundation of various kinds of connective tissues, which take care of the internal structures of the body. The classes of collagen that get influenced the most by Stickler syndrome are the types that constitute different areas like cartilage, which is a tissue that cushions bones inside the joints; and ‘vitreous’, a rubbery liquid that fills up the middle portion of the eye.

If one of the parents suffers from Stickler syndrome, then there is a fifty percent chance of passing on the condition to the child. In rare cases, people may develop this syndrome even though the parent is not be a carrier of the mutated gene. In such cases, it occurs due to random transmutation in one of the genes.


There is no treatment that can cure Stickler syndrome. The methodology which can prevent complications and manage symptoms include –


  • Glaucoma drugs: Children with glaucoma have to take medicines on a daily basis to manage the stress in their eyes. These medicines are mostly available aseye drops.
  • Nonsteroidal anti-inflammatory drugs or NSAIDs: Drugs like ibuprofen and naproxen help ease inflexibility, pain, and joint swelling.


  • Speech therapy
  • Physical therapy
  • Special education

Sensory aids

  • Hearing aids
  • Corrective lenses


  • Jaw surgery: Specialists can extend the lower jaw by splitting the jawbone and inserting a machine that will slowly broaden the bone as it gets well.
  • Eye surgeries:To maintain good eyesight surgeries have to be carried out through which cataracts are removed, and the detached retinas are reattached
  • Cleft palate repair: Children with an opening in the cleft palate usually go through operations in which tissues are extended to close the hole in the mouth’s roof.
  • Tracheotomy: A child with very tiny jaws and large tongue may require tracheotomy to make a gap in the oesophagus so that the child is able to breathe. The surgery is undone as soon as the baby grows older wherein his/her breathing is no longer obstructed.

Life Expectancy

The life expectancy of a person with stickler syndrome is normal similar to that of an average person. People with this syndrome have been seen to live for more than 65 years. With treatment and addressing of the symptoms, better quality of life and longevity can be achieved.

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