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Related Experiment Video

Updated: Mar 7, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Ellis-van Creveld Syndrome.

A Mahakrishnan, S Velu, P I Pandian

    Indian Journal of Dermatology, Venereology and Leprology
    |February 21, 2017
    PubMed
    Summary

    This report details a rare case of Ellis-Van Creveld Syndrome in a 21-year-old male. It is the second documented living case from India, highlighting the condition's infrequent occurrence.

    Area of Science:

    • Genetics
    • Rare Diseases
    • Pediatric Endocrinology

    Background:

    • Ellis-Van Creveld Syndrome (EVS) is a rare autosomal recessive disorder.
    • Characterized by skeletal dysplasia, specifically short ribs and limbs, and ectodermal and dental abnormalities.
    • Genetic mutations in EVC and EVC2 genes are implicated.

    Observation:

    • A 21-year-old male presented with typical clinical features of Ellis-Van Creveld Syndrome.
    • The patient exhibited characteristic skeletal, dental, and ectodermal anomalies consistent with the syndrome.
    • No prior living cases of EVS had been reported from India until recently.

    Findings:

    • This case represents the second documented living individual with Ellis-Van Creveld Syndrome in India.
    • The presentation confirms the typical phenotypic expression of EVS in this patient.

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  • Highlights the importance of recognizing rare genetic disorders in diverse geographical regions.

    • Implications:

    • Increases awareness of Ellis-Van Creveld Syndrome in the Indian subcontinent.
    • May prompt further research into the prevalence and genetic landscape of EVS in India.
    • Emphasizes the need for early diagnosis and management of rare genetic skeletal dysplasias.