What are the symptoms? Features present in most individuals: mild-to-moderate learning disability. This may cause particular difficulties with expressive speechtypical facial features: highly arched eyebrows; synophrys (eyebrows joined in the middle); hypertelorism (widely spaced eyes); large ears and nose; sparse hairHirschsprung’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 speechptosis (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 scangait and coordination problems – eg wide-based gaitrecurrent ear infections leading to hearing difficultiescongenital 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 monitoredscoliosis 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. What are the causes? Gene alterations (mutations) in the KIAA1279 gene on chromosome 10.1 are known to cause GOSHS in some patients. Exactly how this gene works is not yet known. Gene alterations in KIAA1279 may interfere with growth and migration of young nerve tissue in a developing fetus. Gene testing for KIAA1279 is available in the Netherlands. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Genetic advice and counselling is available for families. Prenatal diagnosisThis may be possible for some families with an affected child where KIAA1279 gene alterations have been identified. Is there support? There is no support group for Goldberg Shprinzten syndrome in the UK. Cross referrals to other entries in Contact’s directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Goldberg Shprinzten syndrome. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.