Disease Information for Chondroectodermal dysp.(Ellis-Van Crev)

Ellis-van Creveld syndrome;Acrodysplasia III, chondrodysplasia ectodermica, chondroectodermal dysplasia, mesoectodermal dysplasia, polydactyly-chondrodystrophy syndrome;A classic congenital syndrome of disproportionate short-limb dwarfism; acromelic dwarfism which is a very rare form of mesomelic dwarfism; Other characteristics are polydactyly (six-fingered dwarfism), a long narrow thorax, hydrotic ectodermal dysplasia, hypoplastic nails and teeth, and congenital heart defects such as atrial and ventricular defects and cleft mitral valve; Associated abnormalities may include genital anomalies, scant or fine hair, mental retardation (30 %), cryptorchism, epispadias, and talipes equinovalgus; There is increased mortality during first year of life, particularly with heart defect;Some authors suggest that there are many overlapping features of renohepatopancreatic dysplasia and Ellis-van Creveld and Jeune syndromes, which indicate that these three conditions may be parts of a disease spectrum rather than being distinct entities; It was described by Ellis and van Creveld in 1940; Very few cases have been reported in the literature; These writers suggested that the syndrome is a recessive, inherited defect without sex linkage; Consanguinity was present in two of their patients; Occurs in the Amish group of Pennsylvania (5:1000)--[whonamedit_com 2005]-----

Ellis-Van Creveld Syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects-------[NORD 2005]-----------

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