Ellis–Van Creveld syndrome
MeSH: D004613ORPHA: 289
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Ellis–Van Creveld syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionNarrow chestHand polydactylyAbnormal fingernail morphologyFailure to thriveAbnormal hair morphologyAbnormal nail morphologyAbnormal heart valve morphologyHypoplastic toenailsFoot polydactylyNail dysplasiaGenu valgumMicromeliaAtrioventricular canal defectNeonatal short-limb short statureShort distal phalanx of fingerShort thoraxAbnormal oral mucosa morphologyAbnormal cardiovascular system morphologyCryptorchidismEpispadiasHypospadiasAbnormality of the ureterAbnormality of the kidneyAbnormal oral frenulum morphologyStrabismusHypodontiaMicrodontiaCapitate-hamate fusionIntrauterine growth retardationVentricular septal defectAtrial septal defectDextrocardiaSitus inversus totalisAbnormal pelvic girdle bone morphologyAplasia/Hypoplasia of the lungsConical incisorAbnormal morphology of female internal genitaliaHydroureterThin vermilion borderDelayed eruption of teethAbnormality of the skeletal systemIntellectual disabilityEmphysemaAcute leukemiaDelayed skeletal maturationCubitus valgusSynostosis of carpal bonesAbnormal bone marrow cell morphologyRenal hypoplasia/aplasiaAbnormal hair quantity
Classification & Codes
MeSH Code
D004613Orphanet Code
ORPHA:289Ellis–Van Creveld syndrome
| MeSH | D004613 |
| Orphanet | ORPHA:289 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO