Goldberg-Shprintzen megacolon syndrome

Alternate names

Goldberg-Shprintzen syndrome; GOSHS

Definition

Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability.

Epidemiology

Goldberg-Shprintzen megacolon syndrome (GOSHS) is extremely rare. To date, there have been less than 20 case reports in the literature. The exact prevalence of GOSHS is unknown.

Cause

Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation) in the KIAA1279 gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

• Goldberg-Shprintzen megacolon syndrome (GOSHS) is inherited in an autosomal recessive pattern.
• All individuals inherit two copies of each gene. In order to have GOSHS, a person must have a mutation in both copies of the responsible gene (KIAA1279) in each cell.
• There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

Signs and symptoms

The symptoms of Goldberg-Shprintzen megacolon syndrome vary from individual to individual. Some people may be more severely affected than others and not everyone with GOSHS will have the same symptoms.

  The most common features of this condition are: 

•Hirschsprung disease (a birth defect in which the colon does not work correctly due to missing nerve cells) •characteristic facial features

• -wide-spaced eyes
• -small head
• -unusual eyebrows and hair

•intellectual/learning disability Other features may include a defect in the iris of the eye (coloboma), short stature, incomplete closure of the roof of the mouth (cleft palate), low muscle tone, and seizures.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Aganglionic megacolon(Enlarged colon lacking nerve cells)
• Cleft palate(Cleft roof of mouth)
• Intellectual disability(Mental deficiency)
• Microcephaly(Abnormally small skull)
• Short stature(Decreased body height)
• Specific learning disability

30%-79% of people have these symptoms

• Iris coloboma(Cat eye)
• Muscular hypotonia(Low or weak muscle tone)
• Ptosis(Drooping upper eyelid)

5%-29% of people have these symptoms

• Bifid scrotum(Cleft of scrotum)
• Finger syndactyly
• Hypertelorism(Wide-set eyes)
• Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
• Hypospadias
• Macrotia(Large ears)
• Pachygyria(Fewer and broader ridges in brain)
• Pointed chin(Pointy chin)
• Seizure
• Sloping forehead(Inclined forehead)
• Sparse and thin eyebrow(Thin, sparse eyebrows)
• Sparse scalp hair(Reduced/lack of hair on scalp)
• Ventriculomegaly
• Wide nasal bridge(Broad nasal bridge)

Diagnosis

The diagnosis of Goldberg-Shprintzen megacolon syndrome is made when an individual has a specific pattern of signs and symptoms seen in this condition. Genetic testing of the KIAA1279 gene can also help confirm the diagnosis.

Treatment

• There is no specific treatment for Goldberg-Shprintzen megacolon syndrome.
• Surgery may be done to treat Hirschsprung disease.
• Other treatment is aimed at preventing or managing the symptoms and complications associated with this syndrome.

Prognosis

• The outcome of a rare disease is influenced by many factors.
• These include the severity of the symptoms, treatment options, other medical conditions and lifestyle influences.
• Goldberg-Shprinzen megacolon syndrome is very rare, and little information is known about the long-term outlook.

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NIH genetic and rare disease info

• NIH info on Goldberg-Shprintzen megacolon syndrome

Goldberg-Shprintzen megacolon syndrome is a rare disease.

Goldberg-Shprintzen megacolon syndrome Resources
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