Living with Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
An extremely rare genetic condition in which a newborn's intestine is blocked by thick first stool (meconium).
Understanding Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Babies have meconium ileus, a blockage from thick first stool, without other signs of cystic fibrosis in the lungs or pancreas. GARD says it has been reported in three families, and two patients developed long-lasting diarrhea in infancy. The disease shows partial penetrance, meaning not everyone with the gene change is affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists:
- Meconium ileus (blocked first stool) in newborns
- Long-lasting diarrhea (less common)
- Small colon (microcolon, less common)
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GUCY2C are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Pull-thru Network
- 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 (mutations) in the GUCY2C gene reduce or remove the activity of guanylate cyclase 2C. It is inherited in an autosomal recessive pattern.
Also known as: gucy2c meconium ileus; intestinal obstruction in newborn due to guanylate cyclase 2c deficiency; meconium ileus caused by mutation in gucy2c; meconium ileus due to guanylate cyclase 2c deficiency
Patient organizations
- Pull-thru NetworkIntestinal obstruction in the newborn due to guanylate cyclase 2C deficiency · United States
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