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 syndromes affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.
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
Instructional Teaching Strategies:
Updated 1/7/2021
