CHARGE syndrome is a rare, multi-system inherited disease that occurs in approximately 1 in 10,000 live births. CHARGE stands for Colobama, Hearth Defect(s), Choanal Atreisa, Retarded Growth and/or development, and Genital and Ear anomalies.
There exists both major and minor manifestations of this disease, affecting all body systems, and CHARGE can also be associated with many other conditions, most notably Pierre-Robin and Tibial Hemimelia, a condition that Dr. Paley has developed successful treatment strategies for.
The major characteristics (stated above) include a Colobama (a hole in an eye structure, such as the iris, retina, choroid or optic disc) in either one or both eyes, leading to severe vision impairment and/or blindness. Choanal Atresis is failure of the nasal passageways or sinuses to develop; in addition multiple cranial nerve palsies are frequently present, including deafness and loss of smell (anosmia). Cardiac defects can include Tetralogy of Fallot, Double-outlet right ventricle, Patent Ductus Arteriosus, Ventricular and atrial septal defects, and AV-canal defect.
Minor characteristics are numerous and may include slow growth and/or development, cleft left lip/palate, hypogonadism, failure of testicles to descend in males, trans-esophageal fistula, multiple facial abnormalities and many hormonal aberrations.
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