Living with Even-plus syndrome
A rare genetic condition with differences in the bones, ears, and nose, and sometimes other organs, noted before birth.
Understanding Even-plus syndrome
Signs can be seen during pregnancy. Other features vary and can include short stature, patches of missing skin, fewer teeth, differences in the brain, and heart, gut, or urinary and genital differences. Development may be delayed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small ears (microtia) or missing ears
- Differences in the spine and bone ends
- Cleft nose tip
- Global developmental delay
- Patches of missing skin at birth
- Hole in the heart wall (atrial septal defect)
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 bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HSPA9 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the HSPA9 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations; epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome; epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome; even (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome; evpls
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 Even-plus syndrome.
Explore research for Even-plus syndrome
Explore actively recruiting Even-plus syndrome studies with HealthSpark.
Find actively recruiting studies for Even-plus syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Even-plus syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Even-plus syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Even-plus syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.