Living with Goldberg-Shprintzen syndrome
A very rare genetic condition with an enlarged colon missing nerve cells, a small head, distinct facial features, and intellectual disability.
Understanding Goldberg-Shprintzen syndrome
Most people are born with Hirschsprung disease, in which the colon is missing nerve cells, leading to intestinal blockage. Some have a gap in the iris of the eye (coloboma), brain differences, an opening in the roof of the mouth (cleft palate), and short stature. It is usually noticed in the newborn period or infancy. It is diagnosed from signs and symptoms and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged colon missing nerve cells (Hirschsprung disease)
- Small head size (microcephaly)
- Intellectual disability
- Cleft palate
- Eye differences, such as drooping eyelids or iris coloboma
- Low muscle tone and short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, ear, nose, and throat specialists and eye disease specialists.
- 3Consider genetic testing
Changes in KIFBP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Association of Gastrointestinal Motility Disorders and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Association of Gastrointestinal Motility Disorders, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Association of Gastrointestinal Motility Disorders and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KIFBP gene (also called KIAA1279) cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: goldberg shprintzen megacolon syndrome; goldberg-shprintzen megacolon syndrome; goshs; megacolon microcephaly syndrome; megacolon-microcephaly syndrome
Patient organizations
- Association of Gastrointestinal Motility DisordersGoldberg-Shprintzen syndrome · United States
- FACES: The National Craniofacial AssociationGoldberg-Shprintzen syndrome · United States
- Pull-thru NetworkGoldberg-Shprintzen syndrome · United States
- REACHGoldberg-Shprintzen syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Goldberg-Shprintzen syndrome.
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