CHARGE Syndrome
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CHARGE Syndrome Overview

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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?
Elite in CHARGE Syndrome
Dr. Donna M. Martin
Medical Genetics | Pediatrics
Elite in CHARGE Syndrome
Dr. Donna M. Martin
Medical Genetics | Pediatrics
Referral may be required

C. S. Mott Children's Hospital

1540 E Hospital Dr, Floor 6 Reception C, 
Ann Arbor, MI 
734-764-0579
Languages Spoken:
English
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Donna Martin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Martin is rated as an Elite provider by MediFind in the treatment of CHARGE Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses CHARGE Syndrome and Neurofibromatosis Type 1 (NF1).

Elite in CHARGE Syndrome
Conny M. Arts-Van Ravenswaaij
Elite in CHARGE Syndrome
Conny M. Arts-Van Ravenswaaij
Referral may be required
Groningen, GR, NL 

Conny Arts-Van Ravenswaaij practices practicing medicine in Groningen, Netherlands. Arts-Van Ravenswaaij is rated as an Elite expert by MediFind in the treatment of CHARGE Syndrome. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses CHARGE Syndrome, Coloboma, Ulnar-Mammary Syndrome, and Choanal Atresia.

 
 
 
 
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Elite in CHARGE Syndrome
Dr. Ethan D. Sperry
Medical Genetics | Pediatrics
Elite in CHARGE Syndrome
Dr. Ethan D. Sperry
Medical Genetics | Pediatrics
Referral may be required
3333 Burnet Ave # Mlc4006, 
Cincinnati, OH 
513-636-4760
Languages Spoken:
English
See accepted insurances

Ethan Sperry is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cincinnati, Ohio. Dr. Sperry is rated as an Elite provider by MediFind in the treatment of CHARGE Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses CHARGE Syndrome, Chromosome 2p Duplication, and Adrenoleukodystrophy (ALD).

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What are the latest CHARGE Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Enrollment Status: Recruiting
Publish Date: September 06, 2023
Intervention Type: Diagnostic test

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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Who are the sources who wrote this article ?

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