Short-sightedness (myopia)

High risk of detachment of the retina (the light-sensitive layer at the back of the eye)

Early onset cataracts (clouding of the lens)

Glaucoma (due to high pressure within the eye)

Bones and Joints:

Both stiff and hypermobile joints

Early onset osteoarthritis (wear and tear arthritis, particularly at the hips)

Scoliosis (curvature of the spine)

Joint pain

Facial Characteristics:

A flat face (flat cheek bones) with a small nose, and

Little or no nasal bridge

Small upper jaw

Small lower jaw


Cleft palate (an opening in the roof of the mouth). This may also lead to ear infections

High arched palate

Bifid uvula

Micrognathia (the lower jaw is shorter than normal)

These problems may lead to difficulties with speech, swallowing, and breathing.


Hearing loss (as with visual impairment, this might for example manifest as learning difficulties (not intelligence) at school etc.

Glue ear in childhood caused by cleft palate


Mitral valve prolapse

The Pierre Robin Sequence (PRS)

This is a rare trio of cleft palate, retrognathia (small lower jaw leading to an ‘over-bite’), and backward displacement of the tongue. The tongue may be too large for the space formed by the small lower jaw. Its backward displacement can then block the airway. PRS may arise spontaneously (in about 40% of cases) or a consequence of Sticklers syndrome, Foetal Alcohol syndrome and other rare conditions such as Treacher Colins’ syndrome.