digeorge syndrome: 22q deletion

DiGeorge Syndrome: What is 22q Deletion?

Katie Blauth Child Development, Special Needs Diagnoses

The term 22q refers to a missing part of Chromosome 22, specifically in the area of 22q11.2. It used to be referred to by several names, such as velocardiofacial syndrome, DiGeorge Syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.  All of these syndromes have been found to have the same core issue, the deletion of the 22q11.2 chromosome.

It is a chromosomal difference that can occur even if neither parent has the disorder.  Approximately 5-10% of children inherit the deletion from a parent who has the deletion. Because it is autosomal dominant, there is a 50% chance of an affected individual to pass it to their child.  It occurs in about 1 out of 2,000 to 4,000 live births, in 5-8% of children with cleft palate, and in 1 in 68 children with congenital heart disease.  It is almost as common as Down syndrome.

Children born with 22q deletion can have a wide range of features.  These can include the following:  heart defects, cleft palate, kidney problems, growth delay, cognitive and speech delays, ADHD, autism, low blood calcium, microcephaly (small head), immune system deficits, and hearing loss.  Facial characteristics include small ears with a squared upper ear, almond shaped eyes, flattened bridge of the nose, pear-shaped nose, and small mouth and chin.

Diagnosis and Treatment

This condition is diagnosed by genetic testing.  Once diagnosed, it is important that your child follow up with the appropriate professionals.  These professionals can include a cardiologist, ENT, endocrinologist, immunologist, neurologist, urologist, or audiologist.  Other professionals that may work with your child can include a speech-language pathologist to address speech production and language development, a feeding specialist to address feeding problems, and/or psychologist to address learning difficulties.  Treatment is designed around the specific needs of each individual child.

Most children with the 22q deletion do well at home with their families and go on to become contributing members of the community.



www.vcfs.org Velo-Cardio-Facial Syndrome Educational Foundation, Inc.

www.22q.org The International 22q11.2 Foundation, Inc.

www.chop.edu Children’s Hospital of Philadelphia.

Shprintzen, Robert J. (2000).  Syndrome Identification for Speech-Language Pathology.  Delmar, Canada.

Peterson-Falzone, Hardin-Jones, & Karnell.  Cleft Palate Speech.  (2001). Mosby, Inc., St Louis.

Katie BlauthDiGeorge Syndrome: What is 22q Deletion?