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.
Cayer Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome(CTAF)
DiGeorge Syndrome (DGS)
Opitz G/BBB Syndrome
Velo-Cardio-Facial Syndrome (VCFS)
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
Cri-Du Chat, French for cry of the cat is a rare genetic disorder that occurs when there is a total or short deletion in the short arm of Chromosome 5. This portion of the chromosome is responsible for intellectual disability while the region of 5p15.3 is associated with speech delays and the high-pitched cat cry. The high pitch cry is similar to the sound of a cat mewing which generally disappears after a few months or years in some cases. It is believed this is due to laryngeal alterations.
Although cri du chat is a rare syndrome, it is considered one of the most common syndromes in children and adults. There is an incidence of 1 in 50,000 live births and affects all ethnic and racial backgrounds.
Studies show that in early development, during the first two years, children display issues with dysphasia, muscle hypotonia, and gastroesophageal and nasal reflux. Other early issues include recurrent respiratory infections and psychomotor issues.
An intellectual disability is defined by the ICD-9 as a disorder with onset during the development period including both intellectual and adaptive functioning deficits. People with cri du chat typically fall under the moderate and severe range requiring personal care involving eating, dressing, and hygiene as well as self-care and monitored for self-injury.
Behavior challenges among children and adults with cri du chat include aggressive and self-injurious behavior as well as hyperactivity. A study conducted by Cornish and Pigram (1996) found that there was one characteristics that occurred in more than 75% of the group and none characteristics that occurred in more than 50% of the group including hypersensitivity, to sensory stimuli, self0injurious behavior, repetitive movements, stubbornness and object attachment.
Health sites and that provide information on Cri Du Chat including symptoms, diagnoses, definition and prevalence.