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Learn About CHARGE Syndrome

What is the definition of CHARGE Syndrome?
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. Signs and symptoms vary among people with this condition; however, infants often have multiple medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, genetic changes in the CHD7 gene cause CHARGE syndrome. When caused by a genetic change in the CHD7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) genetic changes in the gene and occur in people with no history of the condition in their family.
What are the alternative names for CHARGE Syndrome?
  • CHARGE syndrome
  • CHARGE association
  • Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
  • Hall-Hittner syndrome
Who are the top CHARGE Syndrome Local Doctors?

Mvhs Inc

111 Hospital Dr, 
Utica, NY 
 48.7 mi

Fred Talarico is a Cardiologist in Utica, New York. Dr. Talarico and is rated as an Advanced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Mitral Valve Regurgitation, Aortic Regurgitation, Mitral Valve Prolapse, and Glucocorticoid-Remediable Aldosteronism.

1 Oxford Xing, 
New Hartford, NY 
 54.7 mi

Alexandra Pellecchia is an Endocrinologist in New Hartford, New York. Dr. Pellecchia and is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Cockayne Syndrome Type 2, Aase Syndrome, Allan-Herndon-Dudley Syndrome, and Johanson-Blizzard Syndrome.

 
 
 
 
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Endocrinology
Endocrinology

Cd Practice Associates Inc

30 Locust St, 
Northampton, MA 
 93.0 mi
Offers Telehealth

John Nicasio is an Endocrinologist in Northampton, Massachusetts. Dr. Nicasio and is rated as an Experienced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Hyperparathyroidism, Postmenopausal Osteoporosis, Osteoporosis, and Hirsutism in Women.

What are the latest CHARGE Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased...

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Assessment Study of Neurovisual Function in CHARGE Syndrome

Summary: The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care

Who are the sources who wrote this article ?

Published Date: May 10, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for CHARGE Syndrome?
CHARGE syndrome in a neonate
Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome
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Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene