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KEY POINTS
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Key Points

  • Autosomal recessive condition that results in short-limbed dwarfism, polydactyly, congenital heart disease, oral frenulae, defective teeth, and generally normal intelligence.

  • Thirty percent of cases occur in consanguineous families.

  • Differential diagnosis includes Jeune syndrome (asphyxiating thoracic dystrophy), short-rib polydactyly syndrome, achondroplasia, and Weyers acrodental dysostosis.

  • Karyotype of affected individuals is usually normal.

  • Caused by genetically heterogenous mutations in two genes, EVC and EVC2, that are next to each other on chromosome 4p16.

  • Compatible with long-term survival.

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CONDITION
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Ellis–van Creveld syndrome is a recessively inherited single-gene disorder that results in short-limbed dwarfism, polydactyly, cardiac abnormalities in 50% to 60% of cases, fingernail dystrophy, oral frenulae, and defective teeth. It was first described in 1940 (Ellis and van Creveld, 1940). The other name for the condition, chondroectodermal dysplasia, does not adequately describe the extent of tissue involvement. Ellis–van Creveld syndrome is characterized by multisystem abnormalities, encompassing: (1) ectodermal dysplasia, affecting the teeth, nail, hair, gums, and lips but not the skin or sweat glands; (2) mesodermal involvement, affecting bone growth and shape, formation of the heart, and occasionally, the kidneys; and (3) endodermal involvement, affecting formation of the lungs and liver (Blackburn and Belliveau, 1971). At least three of the four following criteria are required for diagnosis: ectodermal dysplasia, chondrodysplasia, polydactyly, or the presence of congenital heart disease (Hill, 1977).

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The chondrodystrophy in this condition is manifested by shortening of the extremities, with the distal segments more markedly affected than the proximal segments. In addition, there is metaphyseal thickening of the long bones, and curvature of the weight-bearing bones (Lynch et al., 1968). In Ellis–van Creveld syndrome, the fibula is usually 50% of its normal length (Feingold, 1966). Pathologic studies performed on long bones in affected patients reveal a decreased number of cartilage cells in the cartilage plate and a disorganized columnar arrangement of the chondrocytes (Blackburn and Belliveau, 1971).

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Distinctive cardiac abnormalities are found in this syndrome, such as single atrium or large atrioseptal defect (Blackburn and Belliveau, 1971). Other cardiac abnormalities associated with this condition include aortic atresia, hypoplastic ascending aorta, and hypoplastic left ventricle (Blackburn and Belliveau, 1971).

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Speculation exists as to whether King Richard III of England (1452-1485) had Ellis–van Creveld syndrome. He was the product of a consanguineous union, which makes an autosomal recessive condition more likely. In their writings, both Shakespeare and Sir Thomas Moore alluded to the presence of neonatal teeth, short stature, a skeletal dysplasia, and a crooked back when describing Richard III (Aird and McIntosh, 1978).

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INCIDENCE
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Ellis–van Creveld syndrome has been described in both sexes and all ethnic groups. The incidence of the syndrome is approximately 1 in 60,000 livebirths (Zangwill et al., 1988). It is notable that the ...

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