Ellis-van Creveld syndrome

MONDO:0009162

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

Also known as: Chondroectodermal dysplasia, EVC, Ellis Van Creveld Syndrome, Ellis Van Creveld syndrome, Ellis-VAN Creveld syndrome, Ellis-van Creveld syndrome, Mesoectodermal dysplasia, mesodermic dysplasia

2 clinical trials for this condition and its sub-types, 1 tagged with Ellis-van Creveld syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ Cardiogenetic disease (618) ↑ Ectodermal dysplasia syndrome (45) ↑ Jeune syndrome (2)

Sub-types of Ellis-van Creveld syndrome

Jeune syndrome situs inversus 0 trials

Including sub-types (2) Tagged with Ellis-van Creveld syndrome (1)

Completed 1

Scientists hunt for disease genes in amish and mennonite communities

Knowledge-focused Completed

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC

Ellis-van Creveld syndrome

Where it sits in the disease tree

Scientists hunt for disease genes in amish and mennonite communities