Living with Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
A rare condition present from birth with a short esophagus, a stomach in the chest and spine differences.
Understanding Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
The esophagus is very short, there is a hernia in the middle of the diaphragm, and part of the stomach sits in the chest. The bones of the spine, especially in the neck and upper back, have not closed or formed typically. Other reported features include slow growth before birth, a short neck, intestinal malrotation and cleft lip.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these features:
- Very short esophagus (brachyesophagus)
- Diaphragm hernia with stomach in the chest
- Spine differences in the neck and upper back
- Slow growth before birth
- Short neck
- Cleft lip, in some
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 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 changes in genes cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome; serpentine-like syndrome
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 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome.
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