Living with Axial mesodermal dysplasia spectrum
A rare condition present from before birth that affects the face, ears, spine, kidneys, and lower body.
Understanding Axial mesodermal dysplasia spectrum
It begins during pregnancy and varies a lot from person to person. People can have facial differences, ear differences, spine and bone differences, heart defects, kidney and urinary differences, and anal differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spine bones that did not form normally
- Rib differences
- Kidneys that are absent, small, or in an unusual place
- Absent anus (anal atresia)
- Small or absent lungs
- Acid reflux
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, genetic specialists and kidney 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); Kidney specialists (nephrologists)
- 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 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 genes (also called variants) cause this condition. GARD does not name a gene or inheritance pattern here.
Also known as: blastogenesis defect; russell weaver bull syndrome; russell-weaver-bull syndrome
Patient organizations
- Pull-thru NetworkAxial mesodermal dysplasia spectrum · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Axial mesodermal dysplasia spectrum.
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