Goldberg-Shprintzen megacolon syndrome

Title

Other Names:

Goldberg-Shprintzen syndrome; GOSHS

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Mouth Diseases; Nervous System Diseases See More

Summary Summary

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 H irschsprung 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

Symptoms 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.^[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
Seizures	Seizure	0001250
Sloping forehead	Inclined forehead Receding forehead [ more ]	0000340
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse scalp hair	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 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Cause Cause

Goldberg-Shprintzen megacolon syndrome is caused by a genetic change (mutation) in the KIAA1279 gene.^[3]

Last updated: 3/18/2019

Inheritance Inheritance

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

Diagnosis 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.^[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.

Treatment 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.^[1]^[4]

Last updated: 3/18/2019

Prognosis 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.

Last updated: 3/18/2019

Statistics Statistics

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

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

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.

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.

Organizations Organizations

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

Association of Gastrointestinal Motility Disorders (AGMD)
12 Roberts Drive
Bedford, MA 01730
Telephone: +1-781-275-1300
E-mail: info@gimotility-agmd.org
Website: https://www.agmdhope.org/
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: http://www.faces-cranio.org/
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
PO Box 170864
Milwaukee, WI 53217
Toll-free: 1-888-964-2001
Telephone: +1-414-964-1799
Fax: +1-414-964-7176
E-mail: iffgd@iffgd.org
Website: https://iffgd.org/
World Craniofacial Foundation
P.O. Box 515838
Dallas, TX 75251-5838
Toll-free: 800-533-3315
Telephone: 972-566-6669
Fax: 972-566-3850
E-mail: info@worldcf.org
Website: http://www.worldcf.org/

Organizations Providing General Support

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

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.
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.
Goldberg-Shprintzen syndrome; GOSHS. Online Mendelian Inheritance in Man (OMIM). Updated 8/7/2014; https://www.omim.org/entry/609460.
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.