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Ellis-van Creveld Syndrome Foundation


Address

17 Bridlewood Trail
Honeoye Falls, NY 14472 USA

Phone

5857371500

Email Address

PattiMO44@aol.com

Description

The Ellis-van Creveld Syndrome Foundation (EVCSG) is an international, self-help organization dedicated to providing information, support, and resources to individuals with Ellis Van Creveld syndrome and their families. Ellis Van Creveld syndrome is a rare genetic disorder characterized by short stature due to abnormal shortness of the arms and legs (short limb dwarfism); a deformity in which the legs are abnormally curved inward and the ankles are widely separated (genu valgum); the presence of extra fingers and/or toes (polydactyly); underdeveloped (dysplastic) fingernails; and/or, in some cases, heart abnormalities (congenital heart defects). The disorder is inherited as an autosomal recessive trait. The Ellis Van Creveld Syndrome Foundation was established in 1997 and currently has approximately 12 members. The group is committed to providing support to parents of children with Ellis-van Creveld syndrome, particularly those with newly diagnosed infants or children; searching for and supporting other affected families; obtaining and disseminating information on the disorder; and providing appropriate referrals. The Ellis-van Creveld Syndrome Foundation also offers networking opportunities including e-mail discussion groups that enable affected families to exchange information and resources.

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