Synonym(s)
chondrodysplasia ectodermica; chondrodysplasia triodermica; chondroectodermal dysplasia; Chondroectodermaldysplasia; Ellis van Crefeld syndrome; Ellis van Creveld syndrome
HistoryThis section has been translated automatically.
Ellis and van Creveld, 1940
DefinitionThis section has been translated automatically.
Very rare autosomal recessive syndrome with dysplasia of the ectoderm and mesoderm descendants: characteristic skeletal dysplasia, heart defects, polydactyly and nail hypoplasia.
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EtiopathogenesisThis section has been translated automatically.
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 featuresThis section has been translated automatically.
- 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 diagnosisThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Arya L et al (2001) Ellis-van Creveld Syndrome: a report of two cases. Pediatric Dermatol 18: 485-489
- 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
- Ellis RWB, van Creveld S (1940) Syndromes characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital corditis. Arch Dis Child 15: 65-84
- Katsouras CS et al (2003) Cardiac Ellis-van Creveld syndrome. Int J Cardiol 87: 315-316
- 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
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Incoming links (5)
Chondrodysplasia ectodermica; Chondrodysplasia triodermica; Ectodermal dysplasia ; Ellis van crefeld syndrome; Hypotrichosis;Outgoing links (1)
Chondrodysplasia calcificans congenita;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer