17

What is the history of CHARGE Syndrome?

When was CHARGE Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of CHARGE Syndrome

CHARGE Syndrome:


CHARGE syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a unique combination of features including coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. The name "CHARGE" is an acronym derived from the first letters of these features.


Discovery and Early Cases:


The history of CHARGE syndrome dates back to the early 1970s when Dr. Hall and colleagues at the University of Utah first described a group of children with similar characteristics. They noticed a pattern of anomalies that were not previously recognized as a distinct syndrome. The researchers initially referred to it as "the CHARGE association" due to the combination of symptoms observed.


Recognition as a Syndrome:


Over the next decade, more cases were reported, and the constellation of symptoms became better defined. In 1981, Dr. Hall and Dr. Hittner published a seminal paper that established CHARGE syndrome as a distinct clinical entity. They proposed the acronym CHARGE to facilitate communication and recognition of the syndrome among medical professionals.


Genetic Basis:


It wasn't until the late 1990s that the genetic basis of CHARGE syndrome started to be understood. Researchers discovered that mutations in a gene called CHD7 were responsible for a majority of CHARGE cases. The CHD7 gene provides instructions for making a protein that plays a critical role in embryonic development. Mutations in this gene disrupt normal development, leading to the characteristic features of CHARGE syndrome.


Prevalence and Diagnosis:


CHARGE syndrome is estimated to occur in approximately 1 in 10,000 to 1 in 15,000 births worldwide. However, due to its wide spectrum of symptoms and variable expressivity, it can be challenging to diagnose. The diagnosis is typically based on the presence of major and minor criteria outlined by the CHARGE Syndrome Foundation. Genetic testing can confirm the diagnosis by identifying mutations in the CHD7 gene.


Impact on Individuals and Families:


CHARGE syndrome can have a profound impact on individuals and their families. The combination of physical, sensory, and developmental challenges can result in significant medical, educational, and social needs. Many individuals with CHARGE syndrome require multiple surgeries and ongoing medical interventions. They may also experience hearing loss, vision problems, feeding difficulties, and intellectual disabilities. The complex nature of the syndrome necessitates a multidisciplinary approach to care.


Advancements in Research and Support:


Since its recognition as a distinct syndrome, research on CHARGE has expanded significantly. Scientists continue to investigate the underlying genetic mechanisms and explore potential treatments. The CHARGE Syndrome Foundation, established in 1999, plays a crucial role in supporting affected individuals and their families. The foundation provides resources, advocacy, and facilitates collaboration among researchers and medical professionals.


Conclusion:


CHARGE syndrome has come a long way since its initial description in the 1970s. From being an unrecognized association to a well-defined genetic disorder, our understanding of CHARGE has grown significantly. Ongoing research and support from organizations like the CHARGE Syndrome Foundation continue to improve the lives of individuals and families affected by this complex syndrome.


Diseasemaps
2 answers
Historii neznám, důležité je, co je nyní a kam se medicína dostane, aby pomohla.

Posted Jul 25, 2017 by Andrea 2000

History of CHARGE Syndrome

CHARGE Syndrome life expectancy

What is the life expectancy of someone with CHARGE Syndrome?

5 answers
Celebrities with CHARGE Syndrome

Celebrities with CHARGE Syndrome

1 answer
Is CHARGE Syndrome hereditary?

Is CHARGE Syndrome hereditary?

4 answers
Is CHARGE Syndrome contagious?

Is CHARGE Syndrome contagious?

4 answers
Natural treatment of CHARGE Syndrome

Is there any natural treatment for CHARGE Syndrome?

3 answers
ICD9 and ICD10 codes of CHARGE Syndrome

ICD10 code of CHARGE Syndrome and ICD9 code

3 answers
Living with CHARGE Syndrome

Living with CHARGE Syndrome. How to live with CHARGE Syndrome?

3 answers
CHARGE Syndrome diet

CHARGE Syndrome diet. Is there a diet which improves the quality of life of...

3 answers

World map of CHARGE Syndrome

Find people with CHARGE Syndrome through the map. Connect with them and share experiences. Join the CHARGE Syndrome community.

Stories of CHARGE Syndrome

CHARGE SYNDROME STORIES
CHARGE Syndrome stories
My Sweet Layla Rose, who was born full term, was born with preexisting conditions that were not detected during my pregnancy. At the time of birth, Layla experienced heart failure due to left to right shunting in the setting of a CAVC (complete atrio...
CHARGE Syndrome stories
My son, Henry was born 1/31/2013. he has CHARGE Syndrome with Colombola, no cochlea, a little heart defekt, delay in his development, kidney problems (only 1 left), doesn't communicate BUT is the most happy little Henry. We call him Sir because he is...
CHARGE Syndrome stories
Nací el 05 de cotubre del 2001, siendo el 06 de octubre de ese mismo año mi primera operación, de atresia del esófago. Al año me operaron de comunicacion inter auricular y estenosis de la valvula pulmonar. Luego a los 3 años me diagnosticaron s...
CHARGE Syndrome stories
My son was born in 1998. He has CHARGE - diagnosed within 24 hours and a whole list of additional issues they initially thought was Chromozone 6 Ring Syndrome.. After almost 100 surgical interventions - including 2 HEART, 2 eye, etc.. He is living in...
CHARGE Syndrome stories
My son Joshua was born April 28, 2009. He has 8 heart defects, 2 strokes, a clinical CHARGE diagnosis (he doesn't have the coloboma), epilepsy, central apnea, hypopnea, Stage 3 kidney reflux, deaf, malformations in his ears preventing him to use CIs,...

Tell your story and help others

Tell my story

CHARGE Syndrome forum

CHARGE SYNDROME FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map