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Velocardiofacial (22q11.2 Deletion) Syndrome

What is velocardiofacial syndrome or 22q11.2 deletion syndrome?

Velocardiofacial syndrome is a genetic disorder linked with more than 30 different identifying features.

The name velocardiofacial syndrome comes from the Latin term velum (palate), cardia (heart) and facies (having to do with the face). A syndrome is a disease or disorder that has more than one identifying feature or symptom.

The most common features of velocardiofacial syndrome are cleft palate (an opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Not all of these identifying features are found in every child born with velocardiofacial syndrome.

Though the gene or genes responsible have not been identified, a small part of chromosome 22, known as 22q11.2, is missing in the majority of people with velocardiofacial syndrome.

Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent).

Velocardiofacial syndrome was recognized by Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York in 1978. He described 12 children with the disorder.

Most or all of these 12 children were born with cleft palate, heart defects and similar faces.

Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome or 22q11.2 deletion syndrome.

How much experience do you have treating 22q11.2 deletion syndrome?

Our craniofacial team has a great deal of experience treating children with 22q11.2 deletion syndrome. Right now we are treating 19 children with this syndrome.

Each year five or six children come to our Center for treatment for the first time. Each year we perform an average of 10 surgeries for this condition.

Who gets 22q11.2 deletion syndrome?

The cause of 22q11.2 syndrome is not known, although it is known to be a genetic disorder. It's the syndrome most closely linked with cleft palate.

The syndrome occurs in one of 4,000 newborns. For most babies, this is a new genetic change that was not inherited from their mother or father. For 10 % of children, the genetic change or the defect in chromosome 22 was passed on from the child's mother or father.

Velocardiofacial syndrome is an autosomal dominant condition, meaning there is an abnormal gene in one of the first 22 non-sex chromosomes from either parent. Only one parent needs to have an abnormal gene for the child to inherit the disease.

A person with 22q11.2 syndrome has a 50% chance for each pregnancy of passing the mutation on to the child.

What does a baby with 22q11.2 deletion syndrome look like?

Every baby with 22q11.2 deletion syndrome is different.

Some babies do not have facial differences, and other babies have differences in the way their ears are shaped, long-appearing faces, flat cheeks, a hooded appearance to the eyelid, differences in the way their noses are shaped and a narrow mouth.

Sometimes babies with 22q11.2 deletion syndrome have cleft palate.

How is 22q11.2 deletion syndrome treated?

Below is a list of medical problems that your child may have.

Not every child with 22q11.2 deletion syndrome will have problems in all of these areas. A special plan and group of doctors will be assigned to your family based on your child's specific needs.

All members of the team may need to be involved in the care of a child with 22q11.2 deletion syndrome at different times.

Ear, Nose and Throat

If your child has cleft palate, our surgeon will talk with you about repairing the palate, usually when the child is 1 year old.

Children with 22q11.2 deletion syndrome may have frequent ear infections. Your doctor will follow your child's ear health closely.

Feeding and Breathing

Your doctor will pay special attention to your baby's breathing and eating during infancy.

Because of differences in the palate, some babies may have difficulty with breast and bottle-feeding, and it will be important to make sure that your baby is gaining weight appropriately. A dietitian may see you in the clinic to review your child's diet.

Hearing

All newborns should have a hearing screening, usually performed in the birth hospital or within a few days of birth. If problems are found, further testing will be done.

Heart

Children with 22q11.2 deletion syndrome sometimes have problems with their heart. Your doctor may decide that your child needs an echocardiogram (ultrasound picture of the heart) to see if there are abnormalities.

This procedure is very easy and does not require needle pokes or medicine.

Kidneys

Rarely, children with 22q11.2 deletion syndrome have kidney problems. But we may recommend that your child have a renal ultrasound.

We are looking to make sure that the kidneys were formed normally. If your child has a normal ultrasound, they will not need another kidney ultrasound in the future. This study is very easy and most times takes less than 20 minutes.

Musculoskeletal System

Some children may have differences in their hands and feet, such as tapered fingers or extra toes.

Sometimes, children with 22q11.2 have differences in the way that the bones of the cervical spine (neck) fit together. The craniofacial pediatrician will order X-rays of the cervical spine when the bones are well formed, when your child is at least 2 years old.

Your pediatrician may recommend further studies if the X-rays show changes in your child. This study is easy and does not require needle pokes or medicine.

Speech

Many children with 22q11.2 have differences in the muscles in the back of the mouth, which can lead to differences in the way they speak (called velopharyngeal insufficiency).

If you or your doctors have concerns about your child's speech, your child will be referred to a speech pathologist.

Teeth

Good oral hygiene is important for all children, but especially those with craniofacial disorders. You will meet our dentist and/or orthodontist to discuss these issues.

Other Areas

Sometimes, children with 22q11.2 deletion syndrome have problems with their infection-fighting cells.

Some children can also have problems with low calcium levels. If your child has not already been tested, we will recommend a blood test to evaluate their condition.

Some children with velocardiofacial syndrome have differences in the ways that they learn and process information. When there is a concern about development and/or learning, we may recommend that your child have formal testing by a psychologist.

When there are concerns about a child's behavior, mood or coping, a referral to a psychologist may also be helpful. These evaluations can provide information that can be helpful in finding resources in your community.

If your child has other issues that require treatment, your pediatrician will discuss them with you and your family.