22q11.2 deletion syndrome Market Share Analysis, Growth Opportunities and Challenges, Treatment Algorithm, Emerging Pipeline Therapies, and Epidemiology Insights


22q11.2 deletion syndrome aka DiGeorge Syndrome (DGS) is a primary immunodeficiency, often but not always, characterized by cellular (T-cell) deficiency, characteristic facies, congenital heart disease, and hypocalcemia. The abnormal formation of certain tissues causes DGS during fetal development. Approximately 90% of patients with DGS have a small deletion in chromosome number 22 at position22q11.2. Thus another name for this syndrome is the 22q11.2 deletion syndrome. Other names include velocardiofacial syndrome and conotruncal anomaly face syndrome.

Patients with DGS may have any or all of the following:

Unusual facial appearance - Features may include an underdeveloped chin, eyes with heavy eyelids, ears that are rotated back, and small upper portions of their ear lobes.

Heart defects - These include a variety of heart (or cardiac) defects. The defects usually involve the aorta and the part of the heart from which the aorta develops.

Thymus gland abnormalities - The thymus is crucial in developing the cellular (T-cell) immune system. It is normally located in the upper area of the front of the chest behind the breastbone.

DelveInsight’s “22q11.2 deletion syndrome Market Insights, Epidemiology, and Market Forecast-2032″ report offers an in-depth understanding of the 22q11.2 deletion syndrome, historical and forecasted epidemiology as well as the 22q11.2 deletion syndrome market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. 

Some of the key facts of the 22q11.2 deletion syndrome Market Report: 

  • Approximately 90% of 22q11.2 deletions occur spontaneously and have not been passed on from the mother or father of the child 

  • According to a review article by Kraus et al., (2018) titled “DiGeorge syndrome: Relevance of psychiatric symptoms in undiagnosed adult patients”, the 22q11 deletion syndrome (DS), also known as DiGeorge or velocardiofacial syndrome 

  • The article by Routes et al. (2016) titled “Pulmonary Complications of Primary Immunodeficiencies”, reported that DGS is found in approximately 1 in 3000 live births 

  • Gender-based Epidemiology of 22q11.2 deletion syndrome estimates that the syndrome affects males and females equally 

  • There's currently no cure for DiGeorge syndrome. Children and adults with the condition are closely monitored to check for problems, and these can be treated as they happen if needed 

Request a sample for the 22q11.2 deletion syndrome Market Report

22q11.2 deletion syndrome Symptoms 

The symptoms of 22q11.2 deletion syndrome include –

  • Bluish skin due to poor circulation of oxygen-rich blood

  • Frequent Infections

  • Underdeveloped chin

  • Low-set ears

  • Groove in the upper lip 

Epidemiology Segmentation of 22q11.2 deletion syndrome:

  • Prevalent Cases of 22q11.2 deletion syndrome in the 7MM [2019-2032]

  • Age-Specific Cases of 22q11.2 deletion syndrome in the 7MM [2019–2032]

  • Gender-Specific Cases of 22q11.2 deletion syndrome in the 7MM [2019–2032]

  • Diagnosed and Treated Cases of 22q11.2 deletion syndrome in the 7MM [2019–2032] 

22q11.2 deletion syndrome Market  

The dynamics of the 22q11.2 deletion syndrome market are anticipated to change in the coming years owing to the expected launch of emerging therapies such as       and others during the forecasted period 2019-2032. 

Learn more by requesting for sample @ 22q11.2 deletion syndrome Market Landscape  

22q11.2 deletion syndrome Pipeline Therapies: 

  • NFC-1

  • NB-001

  • ZYN002

  • Metyrosine  

22q11.2 deletion syndrome Pipeline Key Companies:

  • Avalo Therapeutics

  • Zynerba Pharmaceuticals

  • Nobias Therapeutics

  • Enzyvant Therapeutics GmBH

Click here to read more about 22q11.2 deletion syndrome Market Outlook 2032 

Related Reports: 

22q11.2 deletion syndrome Pipeline  

"22q11.2 deletion syndrome Pipeline Insight, 2022" report by DelveInsight outlines comprehensive insights of present clinical development scenarios and growth prospects across the 22q11.2 deletion syndrome market. A detailed picture of the 22q11.2 deletion syndrome pipeline landscape is provided, which includes the disease overview and 22q11.2 deletion syndrome treatment guidelines. 

22q11.2 deletion syndrome Epidemiology 

DelveInsight's '22q11.2 deletion syndrome Epidemiology Forecast to 2032' report delivers an in-depth understanding of the disease, historical and forecasted 22q11.2 deletion syndrome epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. 

 

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