Children with Freeman Sheldon syndrome may have:
- Distinctive facial appearance, including:
- microstomia (a small mouth) with
pursed lips - giving the appearance of a 'whistling face'
- prominent forehead and brow ridges
- mid-face hypoplasia (a sunken appearance of the middle of
- a short nose, and a long philtrum (area between the nose
- hypoglossia (unusually small tongue)
- micrognathia (small jaw)
- a high arch in the roof of the mouth (high-arched palate).
- Eye problems, including:
- hypertelorism (widely spaced
- deep set eyes
- down-slanting palpebral fissures (outside corners of the eyes that point downward)
- blepharophimosis (a narrowing of the eye opening)
- ptosis (droopy eyelids)
- strabismus (a squint, ie eyes that do not look in the same direction).
- Joint problems and bone problems, including:
- joint contractures (deformities)
that restrict movement such as distal arthrogryposis
(multiple contractures in the hands and feet at birth)
- camptodactyly (permanently bent fingers and toes) due to contractures
- ulnar deviation (a hand deformity in which all of the fingers are angled outward)
- clubfoot (inward- and downward-turning feet)
- curvature of the spine (scoliosis).
- Affected children may also experience:
- a failure to gain weight and grow
at the expected rate (failure to thrive)
- speech problems
- hearing loss.
Children affected by Freeman-Sheldon syndrome may also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia.
Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but around one-third have some degree of learning disability.