Stickler Syndrome

What is it?

Stickler Syndrome is a progressive connective tissue disorder.

It is named after Gunnar B. Stickler who defined the condition.

One in 10,000 persons may be affected, although some believe that as many as 3 in 10,000 may be affected.

Stickler Syndrome is usually passed from parent to child. If a parent has this condition, there is a 50% chance of them passing it on. There have also been cases where it has occurred for the first time in a child. In some cases, parents only find out they have Stickler Syndrome when their child is diagnosed.

One symptom of Stickler Syndrome is a cleft palate, and another is Pierre Robin Sequence (PRS). Because of this, it can be hard to diagnose, as if other symptoms aren’t as obvious the diagnosis may just be for cleft palate and/or PRS.

Symptoms, and how severely a person is affected, can vary from patient to patient, even within a family, and can be difficult to diagnose.

Symptoms

Facial Characteristics

• Flat face, small nose with little or no nasal bridge.
• Appearance usually improves with age.
• Cleft palate
• Pierre Robin Sequence

Hearing

• Possible hearing loss.
• Glue ear in childhood linked to cleft palate.

Eyes

• Myopia (short sightedness)
• Risk of retinal detachment
• Cataracts
• Glaucoma

Bones and Joints

• Joints can be stiff or over-flexible
• Osteoarthritis is common in later life

Other symptoms can include:

• Mitral valve prolapse (a problem with the heart to do with valves)
• Scoliosis (curvature of the spine)
• Some learning difficulties may be experienced because of sight and hearing

Wendy’s Story

Wendy Hughes wrote the below article for CLAPA News Issue 10

Have you heard of Stickler Syndrome? Vaguely? Not at all?

When I wrote my book, Stickler – the Elusive Syndrome, I chose this title because the disorder IS elusive. It is also under-diagnosed. In my case it took the medical profession 40 years to give me a diagnosis!

I began life as a “sickly” baby with a sub-mucous cleft palate, which made feeding extremely difficult. Amazingly, the cleft was not discovered until I was 14 years of age when an ENT specialist was trying to find out why I had so many ear infections. As a result, it has never been repaired.

We now know that sub-mucous and high-arched palates (but not cleft lip) are commonly associated with Stickler Syndrome. Other facial abnormalities can include micrognathia (one jaw shorter than the other) and a flat face with a small nose and little or no nasal bridge.

Happily, appearance tends to improve with age. Within the support group we find that many of our members are initially diagnosed as having Pierre Robin Sequence. For some, the diagnosis changes to Stickler Syndrome, a particular variety of the Pierre Robin Sequence, as other symptoms become apparent.

As far as I was concerned, my palate was only one of my problems. Stiff, sore joints prevented me from keeping up with my peers, extreme short-sightedness prevented me from seeing the blackboard, and my hearing was intermittent.

I struggled in a muffled twilight world, finding it difficult to pronounce certain words, which made me introverted and timid. I longed to communicate with others without having to think of all the words I must avoid because I didn’t want to be labelled “different”, but deep down I knew I was not like other children.

By my mid-30s, my joints ached more and my hearing was more intermittent. Then, in May 1988, something dramatic happened. I noticed what appeared to be black streaks falling before my eyes, accompanied by flashes of brilliant light. I went to see my GP and, within six hours, I had been seen by an ophthalmic surgeon and operated on for bilateral detached retinas. Strangely, at the time it did not occur to me that my problems could be linked.

After a careful examination and an investigation into my past and my family history, my surgeon gave me the answer to my problems. I was suffering from a common, but little recognised condition called Hereditary Artho-ophthalmopathy or Stickler Syndrome. To me it was as though my surgeon had handed me the final piece to a complicated puzzle.

Everything began to fit into place. I felt totally elated, a feeling shared by many of the Stickler support group members after years of being misjudged and misunderstood.

After diagnosis, I corresponded with other affected families, which revealed an urgent need for information to prevent anxiety about the disorder.

I vowed to do three things:

1. Set up a support group
2. Write a book about Stickler Syndrome
3. Raise awareness of the condition

The support group began informally in 1989, and Gunnar Stickler attended our first conference in October 1994. Much to my delight, my book, Stickler – The Elusive Syndrome, was completed and published in November 1995, and reviewed in e British Journal of Ophthalmology.

Word concerning the disorder is certainly spreading and it is interesting to watch as a ripple effect radiates throughout the country. The Stickler Syndrome Support Group exists to offer information and support to individuals and families who go on receive a diagnosis of Stickler Syndrome, and to provide interested professionals with information about the condition.

Click here to view Stickler Syndrome: Educational film series – Film 1, Learning Facts and Film 2, Living with Stickler Syndrome