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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...

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Related Experiment Video

Updated: Jul 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

Published on: December 1, 2017

Ellis-van Creveld syndrome.

Geneviève Baujat1, Martine Le Merrer

  • 1Centre de Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker-Enfants Malades, 149 rue de Sèvres 75743, Paris Cedex 15, France. genevieve.baujat@nck.aphp.fr

Orphanet Journal of Rare Diseases
|June 6, 2007
PubMed
Summary

Ellis-van Creveld syndrome (EVC) is a rare genetic disorder causing skeletal and ectodermal abnormalities. Early diagnosis and multidisciplinary management are crucial for improving outcomes in affected individuals.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive chondral and ectodermal dysplasia.
  • Characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.
  • Mutations in EVC1 and EVC2 genes on chromosome 4p16 are causative.

Purpose of the Study:

  • To provide a comprehensive overview of Ellis-van Creveld syndrome.
  • To discuss prenatal and postnatal differential diagnoses.
  • To outline multidisciplinary management strategies and prognosis.

Main Methods:

  • Literature review of reported cases and genetic studies.
  • Analysis of clinical features, inheritance patterns, and diagnostic criteria.

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  • Synthesis of information on prenatal ultrasound findings and postnatal manifestations.

    • Main Results:

    • EVC presents with prenatal findings like narrow thorax and hexadactyly.
    • Postnatal features include short stature, short ribs, polydactyly, and nail/tooth abnormalities.
    • Approximately 60% of cases have heart defects, primarily atrial septation issues.

    Conclusions:

    • EVC requires a multidisciplinary approach for management, including respiratory, cardiac, orthopedic, and dental care.
    • Prognosis is influenced by neonatal respiratory and cardiac complications.
    • Final height prediction in EVC is challenging.