Children diagnosed with Opitz G/ BBB syndrome, also known as Opitz syndrome, may 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 in those children who have the missing chromosome.
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 Opitz G/BBB, DiGeorge, Conotruncal Anomaly Face, and Velocardiofacial syndromes, 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. In 1969, Dr. John Opitz described two similar conditions that he called G syndrome and BBB syndrome. Further research suggested that these two conditions were one disorder but researchers could not agree on how this disorder was inherited. It wasn't until 1995 that one type of Opitz syndrome was linked to 22q deletion syndrome. The 22q11.2 deletion is now thought to be the underlying cause of the medical problems for some patients with Opitz G/BBB syndrome.
Children with Opitz syndrome can have a wide range of medical problems. People with the disorder can have different symptoms. Not all people who inherit this disorder will have symptoms. Even people with Opitz syndrome who are from the same family can have different problem ranging from mild to severe. Some signs and symptoms of Opitz syndrome may be noticed at birth, but others may not appear until later in infancy or early childhood.
People with Opitz syndrome usually have a distinctive look to their face with small chins or jaws, low set ears, crowded, absent or misplaced teeth. In many cases the head may appear large or small and out of proportion to the rest of the body. The most common features of Obitz syndrome are wide-spaced eyes, a broad prominent forehead, heart defects, hypospadias, cleft lip and palate, swallowing problems and noisy breathing.
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.