DiGeorge Syndrome (22q11.2 Deletion Syndrome)

DiGeorge syndrome is a genetic condition that affects the development of several body systems. This page discusses the causes, symptoms, and treatments available for DiGeorge syndrome and related conditions.

DiGeorge syndrome—also known as 22q11.2 deletion syndrome or 22q DiGeorge syndrome—is a genetic condition where one part of chromosome 22 is missing. The small section of chromosome 22 that is missing or “deleted” is known as q11.2.  

DiGeorge syndrome is estimated to occur in about 1 in 2100 births. It can cause autoimmune conditions, heart issues, cleft palate, skeletal abnormalities, low blood calcium, and developmental delay, among other concerns. 

22q11.2 deletion is most often caused by a random deletion of 22q11.2 in the egg or sperm cell during conception. Deletion can also happen early in fetal development. 

Rarely, a child can inherit a 22q11.2 deletion from one of their parents, who may have milder or fewer symptoms of the syndrome themselves. 

DiGeorge syndrome symptoms vary and affect the development of many body systems. Some of the most common symptoms of DiGeorge syndrome include:

• Blood and immune system disorders
• Cleft palate
• Delayed growth and short stature
• Developmental delay including speech disorders and delayed motor milestones related to low muscle tone
• Difficulty with eating or gaining weight
• Distinctive facial features, like wide-set or hooded eyes and an underdeveloped chin
• Hearing loss
• Heart issues such as a heart murmur, poor circulation (which can cause bluish skin, known as cyanosis), and problems with the structure of the heart
• Low muscle tone (known as hypotonia)
• Low levels of blood calcium (hypocalcemia) and parathyroid hormone, which can cause muscle cramps and seizures.
• Mental health conditions such as anxiety disorders, depression, ADHD, and autism spectrum disorders
• Seizures
• Skeletal concerns like scoliosis, cervical spinal anomalies, and clubfoot
• Urinary system anomalies

22q DiGeorge syndrome is diagnosed through a genetic test—usually via blood draw—which can detect the deletion on chromosome 22.  

Your provider may suggest genetic testing for DiGeorge syndrome if your child shows the symptoms listed above, or if they have specific heart problems that are often associated with DiGeorge syndrome. 

DiGeorge syndrome is treated by addressing the health issues it causes. Although 22q11.2 deletion syndrome does not have a cure, there are many options to treat the various conditions that can be caused by the syndrome. These include:

• Cleft palate repair surgery
• Endocrinology evaluation and management of hormones and electrolyte changes
• Hormone and vitamin supplementation to address growth issues and low blood levels of important nutrients
• Gastrostomy tube placement to address feeding and eating difficulties
• Mental health care
• Physical, occupational, and speech therapies to address developmental delays and low muscle tone
• Spine surgery for scoliosis management
• Surgery to repair the heart, so that it can supply more oxygen-rich blood
• Treating underlying immunodeficiency difference and assessing response to vaccines  

When you come to Gillette Children’s, you have access to our full team of board-certified pediatric medical experts, who work with you to develop a plan of care that is tailored to your child in a family-centered environment. This multidisciplinary team includes our specialists in:

• Audiology
• Cardiology
• Craniofacial and cleft surgery
• Complex care and rare diseases
• Dietetics and nutrition
• Endocrinology
• Genetics
• Hematology
• Infectious disease
• Neurology
• Neuropsychology
• Neurosurgery
• Orthopedics, including spine care
• Orthotics, prosthetics, and seating
• Otolaryngology (ENT)
• Rehabilitation therapies
• Sleep medicine
• Social work
• Urology