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National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

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Genes and Disease [Internet].

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Ellis-van Creveld syndrome

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Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia," is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth.

The gene causing Ellis-van Creveld syndrome, EVC, has been mapped to the short arm of chromosome 4. As yet, the function of a healthy EVC gene is not known; this is one of the most important questions that must be answered about the disease, since it would give an indication as to the molecular mechanism of the disease.

Ellis-van Creveld syndrome is often seen among the Old Order Amish community in Lancaster County, Pennsylvania. Because this group of people is small and isolated, it affords a rare opportunity to observe the passage of this particular disorder from generation to generation. A pattern of inheritance can be observed that has indicated the disease is autosomal-recessive (i.e. a mutated gene form both parents is required before the effects of the disease to become apparent).

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