Features present in most individuals:
- mild-to-moderate learning disability. This may cause particular difficulties with expressive speech
- typical facial features: highly arched eyebrows; synophrys (eyebrows joined in the middle); hypertelorism (widely spaced eyes); large ears and nose; sparse hair
- Hirshsprung's disease (failure of the nerves in the lower bowel to work correctly, causing constipation or bowel obstruction)
- microcephaly (reduced head size)
- restricted growth, (ie height in the lower end of the normal range for age).
Features present in some cases:
- cleft palate (see entry Cleft Lip and/or Palate), or problems with palate function. This can lead to: feeding difficulties and excessive drooling and speech difficulties including 'nasal' sounding speech
- ptosis (drooping eyelids)
- magnetic resonance imaging (MRI) brain scan abnormalities: changes in the grooves of the brain (polymicrogyria) and other subtle abnormalities can sometimes be seen on high resolution scan
- gait and coordination problems - eg wide-based gait
- recurrent ear infections leading to hearing difficulties
- congenital heart problems (rare).
As children with GOSHS get older, as teens and young adults they may also develop problems with:
- corneal hypoasthesia (reduced sensation to the surface of the eye). This can cause recurrent eye infections if not monitored
- scoliosis or lordosis (increased curvature of the spine)
- decreased muscle strength - reported in two individuals to date.
In these instances, referral to an appropriate specialist is recommended at an early stage.