chondroectodermal dysplasia


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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.

chondroectodermal dysplasia

[kon′drō·ek′tədur′məl]
an inherited form of dwarfism marked by distal limb shortening, postaxial polydactyly, and cardiovascular abnormalities. It is transmitted by an autosomal recessive gene. Also called Ellis-van Creveld syndrome.

Ellis van Creveld syndrome

A rare autosomal dominant condition (OMIM:225500) often caused by a so-called founder effect, which is characterised by dental defects, nail dystrophy, postaxial polydactyly, short-limbed dwarfism, normal intelligence and atrial septal defect resulting in a common atrium (occurs in 60% of affected individuals). Ellis van Creveld and Weyers syndrome may coexist within pedigrees.

Management
Surgery for polydactyly; dental surveillance in the first decade of life.

Molecular pathology
Mutation of EVC on chromosome 4p16.2.

chon·dro·ec·to·der·mal dys·pla·si·a

(kon'drō-ek-tō-dĕr'măl dis-plā'zē-ă)
Triad of chondrodysplasia, ectodermal dysplasia, and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance.

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

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.

chondroectodermal dysplasia (Ellis-van Creveld syndrome) (kon´drōek´tōdur´məl displā´zhə),

n a syndrome characterized by the following tetrad: (1) bilateral polydactyly; (2) chondrodysplasia of the long bones resulting in acromelic dwarfism; (3) anomalies of the teeth, nails, hair, and maxillary and mandibular region anteriorly; and (4) heart malformation.