National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Goldberg-Shprintzen megacolon syndrome

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.[1] Most people with GOSHS also are born with Hirschsprung disease, a condition in which the colon is missing nerve cells, leading to intestinal blockage.[2] Some patients with this condition have a defect in the iris of the eye (coloboma), brain and other central nervous system abnormalities, an opening in the roof of the mouth (cleft palate) and short stature. This condition is caused by changes (mutations) in the KIAA1279 (also known as K1F1BP) gene, and appears to be inherited in an autosomal recessive pattern.[2][3] GOSHS is diagnosed based on the signs and symptoms and through genetic testing. Treatment is based on the symptoms and may include surgery.[4] This condition has been described in only about 15 individuals to date, and the long-term outlook for people with GOSHS is unclear. 
Last updated: 3/18/2019
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.[1][4] 

Last updated: 3/18/2019

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 51 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Cleft palate
Cleft roof of mouth
0000175
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Specific learning disability 0001328
30%-79% of people have these symptoms
Iris coloboma
Cat eye
0000612
Muscular hypotonia
Low or weak muscle tone
0001252
Ptosis
Drooping upper eyelid
0000508
5%-29% of people have these symptoms
Bifid scrotum
Cleft of scrotum
0000048
Finger syndactyly 0006101
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypospadias 0000047
Macrotia
Large ears
0000400
Pachygyria
Fewer and broader ridges in brain
0001302
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ] 		0000307
Seizure 0001250
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
Ventriculomegaly 0002119
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bulbous nose 0000414
Clinodactyly
Permanent curving of the finger
0030084
Congenital onset
Symptoms present at birth
0003577
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Corneal ulceration 0012804
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ] 		0002365
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Megalocornea
Enlarged cornea
0000485
Polymicrogyria
More grooves in brain
0002126
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Short neck
Decreased length of neck
0000470
Short philtrum 0000322
Small hand
Disproportionately small hands
0200055
Sparse hair 0008070
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
Tapered finger
Tapered fingertips
Tapering fingers
[ more ] 		0001182
Telecanthus
Corners of eye widely separated
0000506
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] 		0012471
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
Showing of 51 |
Last updated: 7/1/2020
Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation) in the KIAA1279 gene.[3]
Last updated: 3/18/2019
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.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to have the disorder
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier



Last updated: 3/18/2019
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.[2]
Last updated: 3/18/2019

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.[1][4] 
Last updated: 3/18/2019
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.  
Last updated: 3/18/2019
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. 
Last updated: 3/18/2019

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Main differential diagnoses include Mowat-Wilson (MWS) and Baraitser-Winter syndromes. Different facial characteristics (thick, horizontal eyebrows and uplifted earlobes with a central depression), presence of seizures and hypospadias, and absence of polymicrogyria and oligodontia distinguish MWS. Key overlapping features with Baraitser-Winter syndrome include intellectual disability, microcephaly, congenital ptosis, high-arched eyebrows, ocular coloboma and short stature; however, Hirschsprung disease, congenital heart defects, and urogenital malformations have not been reported in this syndrome.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Goldberg-Shprintzen megacolon syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I. KBP-Cytoskeleton Interactions Underlie Developmental Anomalies in Goldberg-Shprintzen Syndrome. Hum Mol Genet. Feb 19, 2013; http://www.ncbi.nlm.nih.gov/pubmed/23427148.
  2. Salehpour S, Hashemi-Gorji F, Miryounesi M. Association of a novel nonsense mutation in KIAA1279 with Goldberg-Shprintzen syndrome. Ir Jl Child Neur. Winter, 2017; 11(1):70-74. https://www.ncbi.nlm.nih.gov/pubmed/28277559.
  3. Goldberg-Shprintzen syndrome; GOSHS. Online Mendelian Inheritance in Man (OMIM). Updated 8/7/2014; https://www.omim.org/entry/609460.
  4. Dafsari HS, Byrne S, Lin JP, Pitt M, Jongbloed JD, Flinter F, Jungbluth H. Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. Am J Med Genet. Jun 2015; 167(6):1300-1304. https://www.ncbi.nlm.nih.gov/pubmed/25846562.