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 is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.^[1]

Last updated: 3/6/2013

Symptoms Symptoms

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.

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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		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		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	Wearing away or breakdown of cornea of 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

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

Last updated: 11/1/2018

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

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.

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.

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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References References

Goldberg-Shprintzen megacolon syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629. Accessed 10/6/2011.
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. Accessed 3/6/2013.

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