Living with Microgastria-limb reduction defect syndrome
A rare condition present from birth with a small stomach and differences in the arms and hands, sometimes with other organ differences.
Understanding Microgastria-limb reduction defect syndrome
GARD reports fewer than 60 known cases. Symptoms may include vomiting, aspiration pneumonia (lung infection from stomach contents), and growth problems. Differences in the heart, lungs, kidneys, and digestive system can also occur. GARD says it is caused by an error during early development of the embryo.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small stomach (microgastria)
- Feeding difficulties and acid reflux
- Trouble gaining weight and slow growth
- Differences in the arm bones, hands, and fingers
- Short thumb
- Kidney differences
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 rare disease patient organizations for support
- 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
GARD says it is caused by an error that occurs during development of the embryo. Changes in genes (also called variants) are listed as a cause, but GARD does not name a gene.
Also known as: microgastria-limb reduction defects association
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microgastria-limb reduction defect syndrome.
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