CDG / Congenital Disorder of Glycosylation

Disability/Illness Description:

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, which is the part of the brain that coordinates movement. Distinctive facial features are sometimes present in affected individuals, including 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)

Associations/Groups:

CCDG Care
promotes greater awareness and understanding of Congenital Disorders of Glycosylation (CDG) as well as information and support for families
CDG CARE
Attn: Andrea Berarducci, President
P.O. Box 38832
Colorado Springs, Colorado 80937-8832
Phone: 866-295-7910
Email: info@cdgcare.com

National Organization for Rare Disorders (NORD)
information on symptoms, causes and treatment
55 Kenosia Avenue
Danbury, CT 06810
Phone: 203-744-0100
Fax: 203-263-9938

Massachusetts Office
1900 Crown Colony Drive, 4th floor
Quincy, MA 02169
Phone: 617-249-7300
Fax: 617-249-7301
Email: orphan@rarediseases.org

Other Information:

Congenital Disorder of Glycosylation – US National Library of Medicine

 

Fact Sheet last updated on: 1/19/2017