CHARGE Syndrome
From WikiGenetics
Contents |
[edit] Name of Condition
CHARGE syndrome.
[edit] Definition
CHARGE syndrome stands for Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genital malformations and Ear anomalies.
[edit] Description, Signs and Symptoms
Patients with CHARGE syndrome present at birth with multiple medical problems. Mortality correlates with cyanotic heart disease, tracheoesophageal fistula, bilateral choanal atresia, feeding problems, male gender and brainstem anomalies.
[edit] Inheritance
Autosomal dominant inheritance. CHARGE syndrome is caused by mutations of CHD7 gene. The majority of individuals with this disease are sporadic cases.
[edit] Demographics
Prevalence of one in 10,000 births. The highest prevalence reported in the literature was estimated at 1 in 8,500 live births.
[edit] Diagnosis
CHARGE syndrome is a clinical diagnosis.
Major diagnositc criteria are colobomas, choanal atresia or stenosis, ear anomalies and cranial nerve anomalies (especially CN VII, VIII, IX)
Minor criteria are developmental delay, hear defects, retarded growth, genital abnormalities, cleft lip/palate and Tracheoesophageal fistula.
Additional findings are skeletal abnormalities, hand abnormalities, kidney abnormalities and umbilical hernia.
Molecular diagnosis: CHD7 gene mutations are detected in approximately 60-65% of individuals with CHARGE syndrome.
[edit] Treatment and Management
[edit] Prognosis
[edit] Resources
AccessDNA.com - CHARGE syndrome: http://www.AccessDNA.com/condition/CHARGE_Syndrome/85
CHARGE Syndrome Foundation, Inc. 2004 Parkade Boulevard Columbia, MO 65202-3121 Phone: 800-442-7604 or 573-499-4694 www.chargesyndrome.org
