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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.

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Sub-types

Jeune syndrome situs inversus (0)

Broader categories

Cardiovascular disorder (1051) Disease (680) Heart disorder (300) Kidney disorder (214) Musculoskeletal system disorder (207) Hereditary disease (176) Respiratory system disorder (137) Skin disorder (132) Urinary system disorder (66) Bone disorder (51)
Trials to join now! 1 Completed 1
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  • 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

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