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ORPHA:289Malformation syndrome
Also called Chondroectodermal dysplasia · Mesodermic dysplasia
What it is
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
19- Abnormal cardiovascular system morphology
- Abnormal fingernail morphology
- Abnormal heart valve morphology
- Abnormality of the dentition
- Abnormality of the hair
- Abnormal nail morphology
- Abnormal oral mucosa morphology
- Atrioventricular canal defect
- Failure to thrive
- Foot polydactyly
- Genu valgum
- Hand polydactyly
- Hypoplastic toenails
- Micromelia
- Nail dysplasia
- Narrow chest
- Neonatal short-limb short stature
- Short distal phalanx of finger
- Short thorax
Common30–79%
18- Abnormality of pelvic girdle bone morphology
- Abnormality of the kidney
- Abnormality of the ureter
- Abnormal oral frenulum morphology
- Aplasia/Hypoplasia of the lungs
- Atrial septal defect
- Capitate-hamate fusion
- Conical incisor
- Cryptorchidism
- Dextrocardia
- Epispadias
- Hypodontia
- Hypospadias
- Intrauterine growth retardation
- Microdontia
- Situs inversus totalis
- Strabismus
- Ventricular septal defect
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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