Ellis-van Creveld syndrome


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.

chon·dro·ec·to·der·mal dys·pla·si·a

[MIM*225500]
triad of chondrodysplasia, ectodermal dysplasia, and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance; caused by a mutation in the EU gene on 4p. Maps to human chromosome 4p16.

Ellis-van Creveld syndrome

Ellis,

Richard White Bernhard, English physician, 1902-1966.
Ellis-van Creveld syndrome - triad of chondrodysplasia, ectodermal dysplasia, and polydactyly, with congenital heart defects in over half of patients. Synonym(s): chondroectodermal dysplasia

van Creveld,

Simon, Dutch pediatrician, 1894-1971.
Ellis-van Creveld syndrome - see under Ellis, Richard White Bernhard

chon·dro·ec·to·der·mal dys·pla·si·a

(kon'drō-ek-tō-dĕr'măl dis-plā'zē-ă) [MIM*225500]
Disorder involving chondrodysplasia, ectodermal dysplasia, and polydactyly with congenital heart defects, dwarfism, and abnormalities in teeth, hair, and nails.
Synonym(s): Ellis-van Creveld syndrome.