$Unique_ID{BRK03588} $Pretitle{} $Title{CHARGE Association} $Subject{CHARGE Association Choanal Atresia, Posterior PCA Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies. Congenital Heart Diseases, including Atrio-Septal or Ventriculo-Septal Defects} $Volume{} $Log{} Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 550: CHARGE Association ** IMPORTANT ** It is possible the main title of the article (CHARGE Association) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Choanal Atresia, Posterior PCA Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies. The following disorders may be associated with CHARGE Association as secondary characteristics: Congenital Heart Diseases, including Atrio-Septal or Ventriculo-Septal Defects General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. CHARGE Association is a very rare disorder characterized by a variety of symptoms. At least four of the following six characteristics are necessary for the diagnosis of CHARGE Association: (1) Absence of some eye tissue, including the iris (Coloboma); (2) Heart disease; (3) Absence of the opening between the nasal cavity and the back of the throat (Atresia of the choanae); (4) Retarded growth and development and central nervous system abnormalities; (5) underdevelopment of the Genitals; (6) Ear abnormalities and loss of hearing. The first initials of Coloboma, Heart, Atresia, Retardation, Genitals and Ear, compose the word CHARGE. Approximately 75% of males with CHARGE Association have an abnormally small penis and a lack of development of the testicle, which may result in an inadequate secretion of pituitary hormone. Symptoms CHARGE Association is characterized by a variety of inborn abnormalities. The presence of at least four of the six most common abnormalities is required for diagnosis of CHARGE Association. Coloboma: Coloboma is a term referring to the absence of some eye tissue, including the colored circle around the eye's pupil (iris) or in the optic nerve. Heart: About 80% of patients with this disorder have inborn heart disease, characterized by developmental abnormalities in the large artery (aorta) (e.g., patent ductus arteriosus) which normally carries blood from the heart to other parts of the body or in the heart (e.g., ventricular septal defect). the nasal cavity and the back of the throat (choana). Retardation: Retarded growth and development can occur as well as central nervous system abnormalities. Genitals: Sex organs may be underdeveloped. Ears: Abnormally short wide ears with other distinctive abnormalities may develop. Sometimes the shape of the right and left ears may differ. Hearing may be impaired to various degrees, ranging from mild to severe loss of hearing. Causes CHARGE Association is, in some cases, a hereditary disorder transmitted through autosomal recessive genes. In some studies this disorder was found to occur in more than one member of a family. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population CHARGE Association is a very rare disorder affecting only approximately 200 persons in the United States. The disorder affects twice as many females as males. Related Disorders The following disorders may be associated with CHARGE Association as secondary characteristics. They are not necessary for a differential diagnosis: Congenital Heart Diseases characterized by an abnormal opening in the dividing wall between the heart chambers (atrio-septal or ventriculo-septal defects) can cause serious abnormalities in heart function. These defects can occur alone as well as in association with other birth defects including CHARGE Association. Therapies: Standard Diagnosis of CHARGE Association is confirmed when at least four of the six main characteristics of this disorder are identified in a patient. Surgical repair of the defects in the dividing walls between heart chambers or in the aorta and/or its arch as well as some of the other abnormalities, can be beneficial. A full heart evaluation is recommended for all children with coloboma and/or choanal atresia, in whom CHARGE Association is a possible diagnosis. Heart specialists should evaluate patients with defects in the big arteries just outside the heart (conotruncal or aortic arch defects), and abnormalities in other parts of the body for the possible diagnosis of CHARGE Association. Therapies: Investigational This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on CHARGE Association, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 CHARGE Syndrome Booklet Quota Club 2004 Parkade Blvd. Columbia, MO 65202 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 887-888. THE PATTERN OF CARDIOVASCULAR MALFORMATION IN CHARGE ASSOCIATION: A.E. Lin, et al.; American Journal Dis Child (September 1987: issue 141(9)). Pp. 1010-1013. THE CHARGE ASSOCIATION. HOW WELL CAN THEY DO? E. Goldson, et al.; American Journal Dis Child (September 1986: issue 140(9)). Pp. 918-921. FAMILIAL CHARGE SYNDROME: CLINICAL REPORT WITH AUTOPSY FINDINGS: L.A. Metlay, et al.; American Journal Med Genet (March 1987: issue 26(3)). Pp. 577-581.