Shprintzen Syndrome :: Nationwide Children's Hospital

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Shprintzen Syndrome

Children diagnosed with Shprintzen syndrome, also known as Velocardiofacial syndrome, have the underlying condition called 22q11.2 deletion syndrome. They are missing a small part of the chromosome 22. This deletion is the cause of the medical problems found in children with Shprintzen syndrome.

Genetic material, made up of genes and chromosomes, is like a blueprint for the development of body systems. A genetic disorder is a disease whose symptoms are caused by a problem in the body’s genetic material. When there is an error in the genetic material, health and development problems in the affected body system can happen.

Most of the time 22q11 deletion happens by chance. However, in about 10 percent of families, the deletion is inherited and other family members are affected or at risk for passing this same deletion to their children. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have their blood studied to look for the same deletion.

22q deletion syndrome was known by several names, including DiGeorge, Conotruncal Anomaly Face, Shprintzen, and Velocardiofacial syndromes (VCFS), before the discovery of the deletion on chromosome 22. In other words, these syndromes share the same cause, but because several different researchers in different areas of expertise described it, the syndrome had multiple names. VCFS was also called Shprintzen syndrome after Dr. Robert J. Shprintzen first described and named it in 1978. Many physicians and researchers today use the term 22q deletion syndrome because it describes the chromosome problem underlying the medical problems in children with Shprintzen syndrome.
The most common problems associated with Shprintzen syndrome include the following:

  • Congenital heart disease
  • Severe speech problems, often associated with cleft palate and VPI problems
  • Early feeding problems
  • Immune disorders
  • Mild developmental delay
  • Learning disabilities
  • Behavioral problems
  • Endocrine problems

Velopharyngeal incompetence (VPI) is the failure of the back of the palate and the throat to close the space connecting the mouth and the nose, causing air to escape through the nose during talking. This causes the child to sound like he or she has a cold when talking. This is most often treated surgically. The most common operation performed in children with VPI is called a pharyngeal flap, an operation that rearranges the tissue in the back of the throat to stop the air going into the child’s nasal cavity.

The new 22q Center at Nationwide Children’s Hospital, along with the Cleft Lip and Palate Center, provides families and their children access to a multidisciplinary team of professionals. Although there is no cure for 22q deletion syndrome, many therapies, medical and surgical treatments are available to address its associated symptoms. The earlier these symptoms are detected, the sooner treatment can be started.

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