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Sticker Syndrome

What is a Stickler Syndrome ?

It s a condition that can result in severe problems of the eyes, ears and the joints. The condition is often referred to as hereditary progressive arthro-ophthalmopathy and is generally detected during childhood.

Children affected by Stickler syndrome usually elicit unique facial characteristics such as a tiny nose, striking eyes and a tapering chin. The jaw tends to be smaller than normal and the movement of the tongue is normally restricted, which leads to feeding and breathing problems during infancy.

There is no known cure for Stickler syndrome. The treatment is focused at alleviating the symptoms and avoiding complications. Certain cases of Stickler syndrome may require surgery as a corrective measure for some of the physical defects that accompany the condition.

Symptoms of Stickler syndrome

The signs and symptoms and the severity levels of these symptoms of Stickler syndrome tend to differ as per the individual cases. Most affected children may elicit a combination of the below mentioned symptoms:

1. Abnormal facial features – The face often has a flattened appearance wherein the nose is tiny and flat and the nasal bridge may sometimes be buried-in. The chin is short and rapidly recedes. As the children with Stickler syndrome age, these altered features become less prominent.

2. Hearing problems – The degree of hearing loss tends to differ from one affected individual to another. The capability to hear high frequency sounds, is usually affected which worsens with the passage of time.

3. Presence of Pierre Robin sequence- A majority of children affected by Stickler syndrome tend to be born with certain congenital defects that lead to feeding and breathing difficulties. This cluster of defects is known as Pierre Robin sequence and includes symptoms such as a tiny jaw, a cleft palate and a tongue that turns inwards towards the throat.

4. Abnormalities of the bones and joints – Osteoarthritis and other forms of arthritis are usually premature and tend to affect most of the children with Stickler syndrome.The joints tend to be excessively flexible and children with Stickler syndrome have easy capability to flex or move their joints beyond the normal angles. This capability tends to decrease as they grow older. A majority of the children with Stickler syndrome may elicit prominently long fingers accompanied by equally large knuckles. Children affected by Stickler syndrome are at greater risk to develop abnormalities of the spine curvature, such as scoliosis. Hence the development of the spine has to be carefully monitored in them, so as to be able to treat and manage or at the earliest stage.

5. Eye abnormalities – Most children affected by Stickler syndrome may experience eye abnormalities that are usually associated with the elderly. Most children with Stickler syndrome are severely myopic or nearsighted from birth. They may also have glaucoma that results in the formation of excessive pressure in the eyes. This can eventually lead to damage of the optic nerve. A small percentage of children affected by Stickler syndrome may have cataracts from birth, while other children may develop cataracts in infancy or childhood. There may be several problems with the retina of the eye, which can lead to its pulling and subsequent damage.

Causes

Mutations of some genes which are responsible for the production of a class of proteins known as collagen, lead to the development of Stickler syndrome. Collagen plays an important role in the development of connective tissues which are the support system of the internal structures of the body

The below mentioned types of collagen are most commonly affected by Stickler syndrome:

  • Vitreous, which is the jelly-like liquid present in the eyes’ center
  • Cartilage, which is the tissue that cushions the bones inside the joints

A majority of Stickler syndrome cases are inherited, and there is a 50 percent of the condition passing on to the child if one of the parents has the syndrome.

In rare cases, Stickler syndrome may develop due to random events that result in the altered genes.

Stickler Syndrome Treatment

Stickler syndrome has no known cure. The treatment is aimed at alleviating and managing the signs and symptoms associated with the condition.

  • Sensory aids:
    • Children with Stickler syndrome who have hearing problems may have a marked improvement of their life with the use of hearing aids
    • Children affected by severe myopia can make use of corrective glasses or contact lenses, as per the doctor’s recommendation
    • Medications:
      • Nonsteroidal anti-inflammatory drugs or NSAIDs may be prescribed to alleviate the joint pain, stiffness and inflammation.
      • Children with Stickler syndrome who have glaucoma will need eye-drop medications for easing eye pressure
      • Therapy
        • Speech therapy may be needed, if the child is affected by loss of hearing and hence cannot hear the speech sounds
        • Physical therapy, the use of braces, etc. may be needed by those children with Stickler syndrome who are unable to freely move their limbs due to excessive stiffness of the joints
        • Surgery may be needed to correct the various structural abnormalities associated with Stickler syndrome

 Stickler Syndrome Pictures

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