Stickler Syndrome

Also known as

Connective tissue disorder affecting formation of collagen. Characterized by distinctive facial abnormalities (Pierre Robin Sequence (Small lower jaw and wide cleft palate), cleft palate, high arched palate), eye problems (short sightedness, cataracts, retinal detachment), hearing loss, and joint problems. Individuals with Stickler syndrome experience a range of signs and symptoms, some people have no signs and symptoms.

Condition details

I would like to edit or add detail to this database entry

Photos of affected individuals

Click images to enlarge.

Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Small lower jaw
  • cleft palate
  • short sightedness
  • hearing loss
  • Micrognathia
  • cleft palate
  • myopia
  • deafness
Child 10-18
Lay terms Clinical terms
  • Joint pain
  • Joint pain
Adult
Lay terms Clinical terms
  • Joint pain
  • retinal detachment
  • Joint pain
  • retinal detachement

Affected genes identified to date

  • COL2A1
  • COL11A1
  • COL11A2
  • COL9A1

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

Dominant inhertitance all individual with the gene have the condition.

How many are affected?

Support groups and organisations

Mrs Wendy Hughes
Stickler Syndrome Support Group
PO BOX 3351
Littlehampton
BN16 9GB
Tel 01903 785771
Facebook

Known experts

Mr Martin Snead
Field of interest
Addenbrookes Hospital
Cambridge
Tel
Facebook
I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here