Living with Ellis-van Creveld syndrome
An inherited bone growth condition with short height, a narrow chest, extra fingers, nail and tooth differences, and often a heart defect.
Understanding Ellis-van Creveld syndrome
People have a narrow chest with short ribs, extra fingers and toes (polydactyly), malformed nails, and dental differences. More than half are born with a heart defect. It overlaps with a milder condition called Weyers acrofacial dysostosis, which involves tooth and nail differences but less short height and typically no heart defects. Signs begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart defects
- Dental differences
- Nail differences
- Hair differences
- Kidney or ureter differences
- Hole between upper heart chambers (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, genetic specialists, heart and blood vessel specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Little People of America, National Foundation for Ectodermal Dysplasias
- 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 Little People of America 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
GARD says changes in a person's genes cause this condition, and the same genes are involved in Weyers acrofacial dysostosis. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chondroectodermal dysplasia; ellis van creveld syndrome; evc; evc - ellis-van creveld syndrome; evc-related ellis-van creveld syndrome; evc2-related ellis-van creveld syndrome
Patient organizations
- Little People of AmericaEllis-van Creveld syndrome · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ellis-van Creveld syndrome.
Explore research for Ellis-van Creveld syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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