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Ellis-van Creveld syndrome

Synonyms
Chondroectodermal dysplasia; EVC-Related Ellis-van Creveld Syndrome; EVC2-Related Ellis-van Creveld Syndrome; Mesoectodermal dysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Ellis-van Creveld Syndrome
Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature with short limbs, dystrophic and/or hypoplastic nails, dental and oral manifestations, congenital heart disease, and radiologic abnormalities (narrow chest, short ribs, short tubular bones, bulbous ends of the proximal ulnae and distal radii, carpal and metacarpal fusions, cone-shaped epiphyses of phalanges, small iliac crests, acetabular spur projections [trident ilia], and lateral slanting of the tibial plateau). Other less common and more variable features include postaxial polydactyly of the feet, upper lip defect, and developmental delay.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jorge Diogo Da Silva
Nataliya Tkachenko
Ana Rita Soares
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Available tests

110 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (110 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DWF-1, EVC1, EVCL, EVC
    Summary: EvC ciliary complex subunit 1

  • Also known as: LBN, WAD, EVC2
    Summary: EvC ciliary complex subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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