Congenital Disorders of Glycosylation (CDG) is an inherited condition that affects many parts of the body. People with CDG-Ia typically develop signs and symptoms of the condition during infancy. Affected infants may have weak muscle tone (hypotonia), retracted (inverted) nipples, an abnormal distribution of fat, eyes that do not look in the same direction (strabismus), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with CDG-Ia also frequently have an underdeveloped cerebellum. A cerebellum is the part of the brain that coordinates movement. Distinctive facial features are sometimes present in affected individuals. Features include a high forehead, a triangular face, large ears, and a thin upper lip. Children with CDG-Ia may also have elevated liver function tests, seizures, fluid around the heart (pericardial effusion), and blood clotting disorders. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. (US National Library of Medicine)
Promotes greater awareness and understanding of Congenital Disorders of Glycosylation (CDG) as well as information and support for families
CDG CARE
Attn: Andrea Miller, President
P.O. Box 38832
Colorado Springs, Colorado 80937-8832
Phone: 866-295-7910
Email: info@cdgcare.com
Information on symptoms, causes and treatment.
55 Kenosia Avenue
Danbury, CT 06810
Phone: 203-744-0100
Sofia Horan – State Ambassador
Email: sofia.horan@rareaction.org
US National Library of Medicine
Fact Sheet last updated on: 8/13/2024
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