Chondroectodermal dysplasia (Ellis-van Creveld syndrome)

Authors

  • Om Prakash Singh Department of Pediatrics, NMCH, Jamuhar, Bihar, India
  • Vikas Kumar Department of Pediatrics, NMCH, Jamuhar, Bihar, India
  • Rahul Kumar Department of Pediatrics, NMCH, Jamuhar, Bihar, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20213325

Keywords:

Chondroectodermal dysplasia, EVC, Hypodontia

Abstract

Ellis-van Creveld syndrome (EVC) is a very rare mesenchymal- ectodermal dysplasia. This was first described in 1940 by Richard W. B. Ellis and Simon van Creveld.This rare condition is inherited as an autosomal recessive trait with variable expression. It is also known as mesoectodermal dysplasia or chondroectodermal dysplasia. The main features of this syndrome are short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. It was found to be more common among the Amish. But sporadic cases have been reported from all over the world including India. The generalized dysplasia of endochondral ossification is because of   in a novel gene on chromosome 4p16. Mutations of the EVC1 and EVC2 genes, located in head to head configuration on chromosome 4p16 have been identified as a causative factor

Author Biography

Om Prakash Singh, Department of Pediatrics, NMCH, Jamuhar, Bihar, India

PROFESSOR AND HOD, PEDIATRICS

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Published

2021-08-23

Issue

Section

Case Reports