GTR Home > Conditions/Phenotypes > Chondroectodermal dysplasia

Summary

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Strabismus
  • Short thorax
  • Hypoplastic toenails
  • Talipes equinovarus
  • Intellectual disability
  • Limb undergrowth
  • Microdontia
  • Intrauterine growth retardation
  • Short long bones
  • Cognitive impairment
  • Abnormality of the alveolar ridges
  • Capitate-hamate fusion
  • Cone-shaped epiphyses of phalanges 2 to 5
  • Nail dysplasia
  • Renal hypoplasia/aplasia
  • Ventricular septal defect
  • Delayed eruption of teeth
  • Postaxial foot polydactyly
  • Abnormality of female internal genitalia
  • Cryptorchidism
  • Epispadias
  • Hypospadias
  • Cleft upper lip
  • Thin vermilion border
  • Hypodontia
  • Natal tooth
  • Pectus carinatum
  • Short ribs
  • Narrow chest
  • Postaxial hand polydactyly
  • Abnormality of the fingernails
  • Dandy-Walker malformation
  • Defect in the atrial septum
  • Abnormality of the heart valves
  • Complete atrioventricular canal defect
  • Situs inversus totalis
  • Emphysema
  • Acute leukemia
  • Abnormality of pelvic girdle bone morphology
  • Delayed skeletal maturation
  • Genu valgum
  • Cubitus valgus
  • Synostosis of carpal bones
  • Abnormality of bone marrow cell morphology
  • Aplasia/Hypoplasia of the lungs
  • Disproportionate short-limb short stature
  • Neonatal short-limb short stature
  • Reduced number of teeth
  • Short distal phalanx of finger
  • Displacement of the external urethral meatus
  • Abnormal hair quantity
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