Goldberg Shprintzen syndrome

Also known as: Goldberg-Shprintzen syndrome; Goldberg-Shprintzen Megacolon syndrome; HSCR Cleft Palate-mental Difficulty

Background

Goldberg Shprintzen syndrome (GOSHS) was first described by R Goldberg and R Shprintzen in 1981. Individuals with this condition have learning difficulties and typical facial features. Hirschsprung’s disease with or without cleft lip and/or palate usually alerts the clinician to the diagnosis, but is not an essential feature. Individuals with GOSHS are usually small in height and head size for their age.

GOSHS affects males and females equally. It is a rare condition and has been reported in only a handful of cases worldwide. It is probably under diagnosed though, as some cases in the past may have been confused with another condition called Mowat-Wilson syndrome. The two conditions are genetically separate and are inherited in different ways.

Credits

Medical text written August 2007 by Dr Helen Murphy, Specialist Registrar in Clinical Genetics, Alder Hey Hospital, Liverpool, UK.

What are the symptoms?

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
  • Hirschsprung’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.

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 patterns
Autosomal recessive. Genetic advice and counselling is available for families.

Prenatal diagnosis
This 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.

Families can use Contact’s freephone helpline for advice and information To meet other families with disabled children, join Contact’s closed (private) Facebook group.

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