Chondroectodermal dysplasia Q77.6

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

chondrodysplasia ectodermica; chondrodysplasia triodermica; chondroectodermal dysplasia; Chondroectodermaldysplasia; Ellis van Crefeld syndrome; Ellis van Creveld syndrome

History
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Ellis and van Creveld, 1940

Definition
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Very rare autosomal recessive syndrome with dysplasia of the ectoderm and mesoderm descendants: characteristic skeletal dysplasia, heart defects, polydactyly and nail hypoplasia.

Etiopathogenesis
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Autosomal recessive hereditary disease caused by mutations of the Ellis-van Creveld Syndrome genes 1 and 2 (EVC 1 gene; EVC gene 2; gene locus: 4p16).

Clinical features
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  • Polydactyly, occasionally syndactyly in the lower extremities.
  • Malformed fingernails: Nail plate often only intimated, also anonymity.
  • Small or dwarf growth as in chondrodystrophy: shortening of the long tubular bones, deformation of the distal and proximal epiphyses.
  • Microcele, limited to the middle part of the upper lip.
  • Absence of the upper external incisors.
  • Also: multiple exostoses, congenital heart defects, sexual infantilism.
  • Optional: alopecia.

Differential diagnosis
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Literature
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  1. Arya L et al (2001) Ellis-van Creveld Syndrome: a report of two cases. Pediatric Dermatol 18: 485-489
  2. Brueton LA, Dillon J, Winter RM (1990) Ellis van Creveld syndrome, Jeune syndrome, and renal hepatic-pancreatic dysplasia: separate entities or disease spectrum. J Med Genet 27: 525
  3. Ellis RWB, van Creveld S (1940) Syndromes characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital corditis. Arch Dis Child 15: 65-84
  4. Katsouras CS et al (2003) Cardiac Ellis-van Creveld syndrome. Int J Cardiol 87: 315-316
  5. Ruiz-Perez VL et al (2003) Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. At J Hum Genet 72: 728-732

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020