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Montefiore-Einstein Regional Center for 22Q11.2 Deletion Syndrome


Montefiore-Einstein Regional Center for 22q11.2 Deletion Syndrome



The 22q11.2 deletion syndrome (22q11DS also known as DiGeorge syndrome or Velo-cardio-facial syndrome) is a genetic disorder that is caused by a microdeletion of part of the long arm of chromosome 22. The frequency is reported to be about one of every 4,000 live births. As a result of numerous medical issues that affect individuals with 22q11DS, it is essential that they receive care from a large number of medical and allied healthcare professionals. At the Montefiore-Einstein Regional Center for 22q11DS, care is delivered by a team of professionals who have experience and expertise in working with patients and families carrying the deletion. We work in unison, communicating and sharing information to formulate an effective treatment plan and intervention tailored to the patient and family.

Signs and Symptoms

Every patient with 22q11.2DS requires individualized medical treatments and procedures because of the variable and unique characteristics of the syndrome, even among affected patients from the same family. Although the presentation may differ, all patients must be evaluated and followed medically to identify medical problems and to prevent avoidable complications. Although not always present some common characteristics of the syndrome are:

  • Heart Defects
  • Cleft palate
  • Feeding or gastrointestinal abnormalities
  • Low calcium or endocrine abnormalities
  • Growth delay
  • Psychiatric disturbance
  • Kidney problems
  • Immune system underdevelopment and risks for infections
  • Sensorineural hearing loss
  • Developmental delay, cognitive and speech delay

Role of Specialists

Because of the variable presentation and progression of symptoms, our experienced medical staff will help the patient and family navigate the constellation of medical treatments and management needed during the course of the patient’s life. Our medical team will give an overview of the diagnosis and prognosis to the patient and family, and provide counseling regarding the risk of recurrence of the condition in future pregnancies.

At the Montefiore-Einstein Regional Center for 22q11 Deletion Syndrome, patients and families will find a variety of allied health professionals ready to assist individuals with their specific needs based on their presentation. Your team of healthcare professionals may include specialists from any of the following fields, including


At Montefiore-Einstein College of Medicine with the assistance from the NIH, we have investigators working on the 22q11DS in order to further understand the various characteristics of the syndrome. Ongoing studies look into the cause of heart defects, hearing loss and psychiatric disturbance in individuals carrying the deletion. Geneticists also look at the cause of the deletion as well as family inheritance from parent to offspring. Some of our scientists are also participating in the International Brain and Behavior Consortium that is investigating schizophrenic illness in patients with the 22q11.2 deletion.

Contact Genetics and Metabolic Diseases