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Updated: May 26, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

S Rudnik-Schöneborn1, K Zerres, L Graul-Neumann

  • 1Institute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen.

Molecular Syndromology
|December 23, 2011
PubMed
Summary

Ellis-van Creveld syndrome, a rare genetic disorder, presents with skeletal malformations. This study details two adult cases, highlighting progressive genu valgum and novel phalangeal joint fusions, expanding the known phenotype.

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Rare Diseases

Background:

  • Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive disorder.
  • Key features include cardiac defects, limb shortening, and polydactyly.
  • Skeletal manifestations can be diverse and progressive.

Purpose of the Study:

  • To describe the clinical course and phenotypic spectrum of Ellis-van Creveld syndrome in adult patients.
  • To report novel skeletal findings, including progressive genu valgum and phalangeal synostoses.
  • To expand understanding of EvC syndrome's progression with age.

Main Methods:

  • Clinical case description of two adult patients with EvC syndrome.
  • Detailed assessment of skeletal features, including limb deformities and joint fusions.
  • Genetic analysis confirming loss-of-function mutations in EVC genes.

Main Results:

  • Both patients exhibited mesomelic short stature and severe, progressive genu valgum.
  • Patient 2 presented with acroosteolysis and symmetrical metacarpal synostosis.
  • Progressive phalangeal synostoses were observed in Patient 2, a previously unreported finding in EvC syndrome.

Conclusions:

  • The phenotypic spectrum of Ellis-van Creveld syndrome is broader than previously recognized, particularly regarding skeletal malformations.
  • Progressive skeletal changes, including joint fusions, can occur in EvC syndrome into adulthood.
  • Understanding these progressive features is crucial for managing patients with EvC syndrome.