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

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Photos of affected individuals

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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


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
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
BN16 9GB
Tel 01903 785771

Known experts

Mr Martin Snead
Field of interest
Addenbrookes Hospital
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