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.
References in periodicals archive ?
Analysis of Ellis van Creveld syndrome gene products: Implications for cardiovascular development and disease.
We report a case of a four and a half yearrs old boy of Ellis Van Creveld syndrome with hexadactylyty of both hands suffering from pericardial patch dehescence and left atrioventricular valve regurgitation.
Ellis Van Creveld syndrome (chondroectodermal dysplasia),9 cyclopia, pachyonychia congenita, cleft lip and palate, Down's syndrome, Pierre-Robin, Pallister-Hall, short rib-polydactyly type II, Wiedeman-Rautenstrauch (neonatal progeria).
Short leg in Ellis Van Creveld syndrome is not producing scoliosis, the reason is not known.
History: The presence of positive family history and short stature in other members of the family will suggest the presence of bone dysplasia, such as multiple epiphyseal dysplasia, multiple metaphyseal dysplasia, multiple enchondromatosis (Ollier's disease), multiple hereditary exostosis, Ellis Van Creveld syndrome [32], or Morquio's disease [33].