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GENATLAS PHENOTYPE
last update : 24-09-2010
Symbol EVC
Location 4p16
Name Ellis-van Creveld syndrome
Other name(s) chondroectodermal dysplasia
Corresponding gene EVC , EVC2
Main clinical features
  • chondrodysplasia with short ribs, hypotrichosis, polydactyly, nails dystrophia, and dental abnormalities, shortening of the limbs
  • spectrum of developmental defects, involving the skeleton, ectoderm and heart
  • in the mouth, multiple frenulae between the lip and the gum; dental anomalies including natal teeth, oligodontia, peg shaped teeth and abnormalities of the enamel
  • two-thirds of affected individuals have a cardiovascular malformation, usually an atrial septal or atrioventricular septal defect
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    congenital malformation
    limbs
    dermatology
    Type disease
    Gene product
    Name EVC gene, LIMBIN
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)
  • EVC2 mutated in 38p100 of patients
  • EVC mutated in 31p100 of patients
  • phenotypic abnormalities result from tissue specific disruption of the response to Hh ligands (PMID: 19876929 )
    • Genotype/Phenotype correlations no phenotypic differences between the two groups of patients