Project for New Mexico Children and Youth Who Are Deafblind Fact Sheets

Project for New Mexico Children and Youth Who Are Deafblind

General Information: CHARGE Syndrome/Association

CHARGE syndrome refers to a specific set of birth defects commonly found together. The word CHARGE is an acronym for each of the birth defects found in individuals diagnosed with CHARGE.

Features:

C = Coloboma

A coloboma is a cleft or failure to close, of the eyeball. This can result in a keyhole shaped pupil and/or abnormalities of the retina or optic nerve. Coloboma's of the retina or optic nerve may result in significant vision loss and heightened sensitivity to bright light.

H = Heart

About 80% of children with CHARGE Syndrome are born with a heart defect. Many are minor defects, but some require treatment or surgery or can be life threatening.

A = Atresia of the choanae

Blockage of the back of the nasal passage. These passages may be blocked (atresia) or narrowed (stenosis). Surgery can often correct these defects.

R = Retardation of growth and development

Physical delay: Although most children with CHARGE Syndrome are average size at birth, many will become small due to nutritional problems, heart problems, or growth hormone deficiency.

Developmental delay: Most children with CHARGE Syndrome will become developmentally delayed. This is primarily due to sensory deficits of vision and/or hearing loss, and frequent hospitalizations as infants. Some children with CHARGE Syndrome will be mentally retarded,with or without brain abnormalities.

G = Genital and urinary abnormalities

Many males with CHARGE Syndrome have a underdeveloped penis and undescended testes. Females may have small labia. Hormone therapy may be required to achieve puberty. Both males and females may have kidney and/or urinary problems.

E = Ear abnormalities and hearing loss

Most children with CHARGE Syndrome have deformed external ear lobes. Mild to profound hearing loss is prevalent in 80-85% of children with CHARGE syndrome. Ear infections may be frequent.

Cause/ Population:

The etiology of CHARGE Syndrome is unknown. It has been found with the same frequency in both males and females, and is both sporadic and familial in nature.Usually a family will not have a second child born with the syndrome. However, chances of having a child born with CHARGE Syndrome increase if one parent is diagnosed with CHARGE ( Hefner, Thenlin & Davenport, 1987). For a diagnosis of CHARGE Syndrome to be made, four of the six characteristics must be present. Presently there is no way to test for CHARGE Syndrome.

For more information contact:

CHARGE Syndrome Foundation, Inc.
2004 Parkade Boulevard
Columbia, MO 65202-3121
Toll free: (800) 442-7604
Or call: (573) 499-4694
Fax: (573) 499-4694
E-mail: meg@chargesyndrome.org
Or: marion@chargesyndrom.org

National Organization for Rare Disorders, Inc. (NORD)
PO Box 8923
New Fairfield, CT 06812-8923
Telephone (203) 746-6518
Fax: (203) 746-6481
Toll free: (800) 999-6673
TDD: (203) 746-6927
E-mail: orphan@nord-rdb.com

Project for New Mexico Children and Youth Who Are Deaf-Blind
(877) 614-4051

For information concerning the website contact roseh@unm.edu