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What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion syndrome is a genetic difference that is linked with over 180 different health issues. As people have learned about this difference it has been called by many names. These include DiGeorge Syndrome, Velocardiofacial Syndrome, Shprintzen Syndrome, and Conotruncal Anomaly Face Syndrome. Now it is often referred to as 22q11.2 deletion syndrome since all of these syndromes have the same underlying condition – the 22q11.2 deletion

What Causes 22q11.2 Deletion Syndrome?

Most people have 23 pairs of chromosomes in their bodies for a total of 46. These chromosomes are made up of many smaller structures which are our genes. Chromosomes are numbered from one to 22 (the 23rd pair are actually the ones which tell whether we are male or female and are called X and Y.)

Children with 22 q11.2 deletion are missing a small piece of their 22nd chromosome, which is why it is called a“deletion” .  The q11.2 is the missing piece of the chromosome. It tells researchers that there is a missing piece on the long arm, known as the q arm, of chromosome 22.

Most children with 22q 11.2 don’t have a parent with the same problem; only 10%, or 1 in 10, parents have the same chromosomal difference. This means most children are the first in their families to have this deletion.  Parents with a child with 22q11 should have a blood test to see if they have this difference and to find out their chances of having other children with the same syndrome. If a child has a diagnosis of 22q11.2 deletion, there is a 50% chance it will be passed on to his or her children.

22q11.2 deletion syndrome is present in 1 out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate.

What are the signs of 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome  may involve many different systems of the body. There are a wide range of health issues which have been linked to this chromosomal difference.  Every child is different, and not all children have all problems.  There are different combinations and different degrees of involvement. Some of the most common affected areas are:

Heart defects: These are usually discovered the earliest and may include tetralogy of Fallot, ventricular septal defect, atrial septal defect, interrupted aortic arch, truncus arteriosus and vascular ring

Palate problems: These may include cleft palate, cleft lip and palate, submucous palate, velopharyngeal dysfunction or VPI (too much air escapes from the nose during talking and speech sounds nasal)

Feeding:  Difficulties may include vomiting, nasal regurgitation (food/fluids leak out the nose casued by palate problem), gastroesophageal reflux (GERD)

Gastrointestinal: Common problems may include constipation, GERD, hernia (diaphragmatic, inguinal, umbilical), intestinal twisting

ENT: Tracheoesophageal fistula, laryngeal web, external ear difference

Orthopedic: Scoliosis, club feet, cervical spine abnormalities

Endocrine/Growth: Newborns may have problems with low calcium. Older children may have growth problem associated with a growth hormone deficiency.

Developmental/Psychology: Children may have delays in speech, language, cognition, or motor skills. They may have differences in learning styles which need extra help in school, and autism and obsessive-compulsive disorders,

Immune: Repeated ear infections, wound infections/poor healing, respiratory infections, autoimmune diseases (juvenile rheumatoid arthritis, vitiligo, idiopathic thrombocytopenia)

Psycholological:  May include autism, obsessive-compulsive disorder

How is 22q11.2 Deletion syndrome diagnosed?

If your child’s pediatrician or specialist thinks there may be a chromosomal problem, your child will be referred for testing. A blood test called FISH (fluorescence in situ hybridization) will help to diagnose this difference. At the Center for Craniofacial Care, all children with cleft palate, with or without cleft lip, and  are recommended to have this test along with medical genetic evaluation.

How is 22q11.2 Deletion Syndrome Treated?

The team members of the Center for Craniofacial Care are experienced in treating children with 22q11.2 deletion syndrome. Your child will first see our pediatric and craniofacial surgeon, Dr. Jennifer Rhodes, for consultation. Based upon that initial evaluation, your child may be invited to attend one of our Monday morning clinics and meet with our craniofacial team. A coordinated and integrated treatment plan will be developed specifically for your child. Recommendations will be reviewed with your family and a detailed team evaluation will be provided. Our team members and coordinators will work with you and your child to make sure that recommendations are completed. Should any referrals be required our team will connect you with the best providers and resources.


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