22q11.2 deletion syndrome, is a rare disorder that is caused by a deletion in chromosome 22 located specifically in the middle of the chromosome in the area referred to as 22q11.2. This syndrome affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.

Causes

22q11.2 is caused by genes missing from the chromosome 22. the chromosome is responsible for the protein production and maintains the body functions. Missing portions of Chromosome 22 can have an impact on every system in the human body including the heart, immune system and kidney abnormalities.

Similar Names

• Cayer Cardiofacial Syndrome
• Conotruncal Anomaly Face Syndrome(CTAF)
• DiGeorge Syndrome (DGS)
• Microdeletion 22q11.2
• Monosomy 22q.11
• Opitz G/BBB Syndrome
• Sedlackova Syndrome
• Shprintzen Syndrome
• Takao Syndrome
• Velo-Cardio-Facial Syndrome (VCFS)

History

• 1955- First appear in medical literature by Dr. Eva Sedlackova who described a number of cases of children with hypernasal speech and reduced facial animations.
• 1965- Dr. Angelo DiGeorge described congenital absence of the thymus gland in 4 patients.
• 1968- Dr William Strong reported an association of cardiac abnormalities.
• 1981- Dr. Shimizu of Japan noticed similarities between patients diagnosed with CTAF and DiGeorge Syndrome
• 1982- Dr’s Richard Kelley, Elaine Zacker and Beverly Emanuel at the Children’s Hospital in Philadelphia discovered that some patients had a rearrangement of chromosome 22 thus causing a piece of the long arm (q11.2) to be missing

Associated Conditions

• cardiac anomalies
• cleft palate
• kidney abnormalities
• language delays
• learning challenges
• developmental delays
• feeding disorders
• autism
• ADHD

Learning Challenges Include:

• Poor Working and short-term memory
• Difficulty with math reasoning
• Difficulty with reading comprehension
• Fine motor and perceptional skills

Updated on 7/25/24