22q11.2 deletion syndrome

22q11.2 deletion syndrome: Introduction

22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans. More detailed information about the symptoms, causes, and treatments of 22q11.2 deletion syndrome is available below.

Symptoms of 22q11.2 deletion syndrome

• Heart defects
• Congenital heart defects
• Grave's disease
• Cleft palate
• Spinal bone abnormalities
• more symptoms...»

See full list of 34 symptoms of 22q11.2 deletion syndrome

Treatments for 22q11.2 deletion syndrome

• Treatment varies depending on the type and severity of symptom that develop
• Surgery may be needed to correct defects or abnormalities e.g. heart defects, facial abnormalities
• Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
• Various symptomatic and supportive measures as required
• Patients with low blood calcium levels due to hypoparathyroidism will need to take calcium supplements and vitamin D for the rest of their life
• more treatments...»

See full list of 6 treatments for 22q11.2 deletion syndrome

Prognosis for 22q11.2 deletion syndrome

Prognosis for 22q11.2 deletion syndrome: The prognosis varies depending on the type and severity of symptoms that develop - some people have so few symptoms that they are never diagnosed. Prompt diagnosis and appropriate treatment in more severe cases can improve prognosis and quality of life.

More about prognosis of 22q11.2 deletion syndrome

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