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22q Deletion Syndrome (DiGeorge Syndrome, VCFS)
What is 22q Deletion Syndrome (DiGeorge Syndrome, VCFS)?
22q11.2 deletion syndrome, or 22q, alternatively known as DiGeorge syndrome (DGS) and VeloCardiofacial syndrome (VCFS), is caused by a chromosome abnormality. All 22q deletion (DiGeorge syndrome, VCFS) patients have a small missing piece in one copy of chromosome number 22. This missing piece includes an estimated 30 to 40 genes. Missing a section of chromosome 22 has the potential to affect many parts of the body and can cause a wide range of health problems, so individuals with 22q deletion (DiGeorge syndrome, VCFS) may experience different symptoms.
What are the signs and symptoms of 22q Deletion Syndrome (DiGeorge Syndrome, VCFS)?
- Distinctive facial appearance, including an underdeveloped chin, heavy-lidded eyes and ears that are rotated back and low-set.
- Heart defects – Defects usually involve the aorta and the part of the heart from which the aorta develops. In some patients, heart defects may be mild or absent.
- Parathyroid gland abnormalities – The parathyroids control the normal metabolism of calcium and phosphorus. These glands may be underdeveloped in patients with 22q deletion syndrome (DiGeorge syndrome, VCFS), causing hypoparathyroidism. People with 22q deletion syndrome (DiGeorge syndrome, VCFS) may have trouble maintaining normal levels of calcium, and this may cause seizures.
- Short stature – Certain children with 22q deletion syndrome (DiGeorge syndrome, VCFS) may be deficient in growth hormone, which can present with short stature or growth failure.
- Speech and feeding – Patients with 22q deletion syndrome (DiGeorge syndrome, VCFS) may have a cleft palate or poor function of the palate resulting in speech differences, delayed speech and difficulty feeding and swallowing.
- Developmental and behavioral challenges – Not uncommonly, patients may have learning differences, behavioral problems, hyperactivity and psychiatric disorders, including anxiety and schizophrenia.
- Thymus gland abnormalities – The thymus is critical in the development of the immune system. Patients with a small thymus produce fewer T-lymphocytes than those with a normally sized thymus. The T-lymphocyte defect varies from patient to patient. In a very small number of patients with 22q deletion syndrome (DiGeorge Syndrome, VCFS), the thymus is completely absent, so patients are more susceptible to infection due to low T-cell count. The majority of patients with 22q deletion syndrome (DiGeorge syndrome, VCFS) have less severe or mild deficiencies.
- Thyroid gland abnormalities – The thyroid gland makes a hormone (chemical in the blood) important to normal brain development for babies and important for a child’s energy levels and metabolism as a child gets older. Thyroid levels can be too high or too low in children with 22q deletion syndrome (DiGeorge syndrome, VCFS).
How is 22q Deletion Syndrome (DiGeorge Syndrome, VCFS) diagnosed?
If your child’s doctor suspects 22q deletion syndrome (DiGeorge syndrome, VCFS), due to a combination of the above symptoms or a heart defect, he or she will order a blood test that can detect a deletion in chromosome 22. What it can’t predict is the specific long-term effects of that change. Children’s Health provides a combination of clinical assessments and lab tests so we can confirm the chromosomal differences, offer a diagnosis and begin to identify which symptoms present themselves.
What causes 22q Deletion Syndrome (DiGeorge Syndrome, VCFS)?
The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg. The deletion can be an inherited condition passed to a child from a parent who also has it, but who is only mildly affected.
How is 22q Deletion Syndrome (DiGeorge Syndrome, VCFS) treated?
Although there is no cure for 22q deletion syndrome (DiGeorge syndrome, VCFS), the treatments below can help manage the problems associated with it.
Early childhood intervention programs are very important. Children should have formal speech, occupational and physical therapy evaluations.
- Heart defects can be addressed by cardiac surgeries, and your child will then follow up with the cardiologist on a regular basis.
- Cleft palate surgery may be an option to help with hypernasality in speech or velopharyngeal incompetence.
- T cell deficiency may or may not require treatment. Recommendations may be provided on how to protect your child from infectious exposures, and treatments may include antibiotics and/or immunoglobulin therapy to prevent infections.
- Your child may be treated with thyroid or calcium and vitamin D supplements if levels are found to be off.
- Assistance with feeding including bottles with specialty nipples.
- Hearing should be checked regularly since hearing loss due to a buildup of fluid behind the eardrums is common. Ventilation tubes may be necessary to help fluid drain out across the eardrum.
22q Deletion Syndrome (DiGeorge Syndrome, VCFS) Doctors and Providers
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Alex Kane, MD Plastic and Craniofacial SurgeonDivision Director at Children's Health Associate Professor at UT Southwestern Medical CenterRead Alex Kane's Full ProfileAlex Kane, MDPlastic and Craniofacial Surgeon
Board Certification:
American Board of Plastic Surgery -
Perrin White, MD Pediatric EndocrinologistDivision Director at Children's Health Professor at UT Southwestern Medical CenterRead Perrin White's Full ProfilePerrin White, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Soumya Adhikari, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Soumya Adhikari's Full ProfileSoumya Adhikari, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Abha Choudhary, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Abha Choudhary's Full ProfileAbha Choudhary, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Ximena Lopez, MD Pediatric EndocrinologistMedical Director, GENECIS Program at Children's Health Associate Professor at UT Southwestern Medical CenterRead Ximena Lopez's Full ProfileXimena Lopez, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Sadia Malik, MD Pediatric CardiologistAssociate Professor at UT Southwestern Medical CenterRead Sadia Malik's Full ProfileSadia Malik, MDPediatric Cardiologist
Board Certification:
American Board of Pediatrics/Pediatric Cardiology -
Angela Scheuerle, MD Pediatric Genetics SpecialistAssociate Professor at UT Southwestern Medical CenterRead Angela Scheuerle's Full ProfileAngela Scheuerle, MDPediatric Genetics Specialist
Board Certification:
American Board of Medical Genetics and Genomics -
James Seaward, MD Plastic and Craniofacial SurgeonAssistant Professor at UT Southwestern Medical CenterRead James Seaward's Full ProfileJames Seaward, MDPlastic and Craniofacial Surgeon
Board Certification:
General Medical Council -
Christian Wysocki, MD Pediatric ImmunologistAssistant Professor at UT Southwestern Medical CenterRead Christian Wysocki's Full ProfileChristian Wysocki, MDPediatric Immunologist
Board Certification:
American Board of Allergy and Immunology -
Bryan Dickson, MD Pediatric EndocrinologistProfessor at UT Southwestern Medical CenterRead Bryan Dickson's Full ProfileBryan Dickson, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Ellen Grishman, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Ellen Grishman's Full ProfileEllen Grishman, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Olga Gupta, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Olga Gupta's Full ProfileOlga Gupta, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Melissa Ham, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Melissa Ham's Full ProfileMelissa Ham, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Huay-Lin Lo, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Huay-Lin Lo's Full ProfileHuay-Lin Lo, MDPediatric Endocrinologist
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Muniza Mogri, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Muniza Mogri's Full ProfileMuniza Mogri, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Sudha Mootha, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Sudha Mootha's Full ProfileSudha Mootha, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Nivedita Patni, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Nivedita Patni's Full ProfileNivedita Patni, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Amanda Shaw, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Amanda Shaw's Full ProfileAmanda Shaw, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Ryan Stewart, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Ryan Stewart's Full ProfileRyan Stewart, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Grace Tannin, MD Pediatric EndocrinologistAssociate Professor at UT Southwestern Medical CenterRead Grace Tannin's Full ProfileGrace Tannin, MDPediatric Endocrinologist
Board Certification:
American Board of Pediatrics/Endocrinology -
Ming Yang, MD Pediatric EndocrinologistAssistant Professor at UT Southwestern Medical CenterRead Ming Yang's Full ProfileMing Yang, MDPediatric Endocrinologist
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Gopi Shah, MD Pediatric Otolaryngologist (ENT)Assistant Professor at UT Southwestern Medical CenterRead Gopi Shah's Full ProfileGopi Shah, MDPediatric Otolaryngologist (ENT)
Board Certification:
American Board of Otolaryngology -
Veronica Edgar, PhD, ABPP Pediatric NeuropsychologistAssociate Professor at UT Southwestern Medical CenterRead Veronica Edgar's Full ProfileVeronica Edgar, PhD, ABPPPediatric Neuropsychologist
Board Certification:
American Board of Professional Psychology -
Michelle Thomas, MD PediatricianAssistant Professor at UT Southwestern Medical CenterRead Michelle Thomas's Full ProfileMichelle Thomas, MDPediatrician
Board Certification:
American Board of Pediatrics
Frequently Asked Questions
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How common is 22q deletion syndrome?
22q deletion syndrome (DiGeorge syndrome, VCFS) is the most common microdeletion syndrome. It occurs in approximately one in every 4,000 people.
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What is the outlook for children with 22q deletion syndrome?
The outlook for children with 22q deletion syndrome (DiGeorge syndrome, VCFS) depends on the function of each affected organ system. The severity of heart disease is usually the most important determining factor. Most children have a mild to moderate deficit in T-cell production that often improves with age. Most patients do not have recurrent infections in adulthood.
Developmental delay, learning differences and problems with attention and behavior are common. Early childhood intervention, speech, occupational therapy and physical therapies can be very helpful.
Neurocognitive evaluation as children get older and in school can assist parents and teachers by providing recommendations for clinical management and academic support in the future.
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Where can I find a 22q deletion syndrome support group?
We will provide you with resources to help both you and your child. The resources below are also a good source for more information about 22q deletion syndrome (DiGeorge syndrome, VCFS) and support groups.