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Article

Ellis-van Creveld syndrome.

Orphanet journal of rare diseases - 4 Jun 2007

Baujat Geneviève, Le Merrer Martine

Abstract excerpt

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination) include...

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Source

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Identifiers

PMID: 17547743
DOI: 10.1186/1750-1172-2-27
PMCID: PMC1891277

Genes

EVC
EVC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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