Shprintzen syndrome

Shprintzen syndrome, also known as Velocardiofacial syndrome (VCFS), is a genetic disorder characterized by a combination of medical problems that vary from child to child. These problems may include cardiac defects, specific facial features, frequent infections, developmental delay, learning problems and speech problems.

Causes

Shprintzen syndrome is caused by a deletion of a small piece of chromosome 22, specifically at the location 22q11.2. This deletion occurs very early in the development of a fetus. The syndrome is not typically inherited from parents, but rather, it is a random event that occurs when the sperm or egg is formed.

Symptoms

The symptoms of Shprintzen syndrome can vary greatly from one person to another. Some of the most common symptoms include:

• Cleft palate or other palate abnormalities
• Heart defects
• Characteristic facial features such as a long face, almond-shaped eyes, and a wide nose
• Learning disabilities
• Speech and feeding problems
• Frequent infections, especially in the ears
• Behavioral problems such as ADHD and anxiety

Diagnosis

Diagnosis of Shprintzen syndrome is typically made through a combination of clinical examination and genetic testing. The clinical examination may reveal characteristic physical features and medical problems, while genetic testing can identify the specific chromosome deletion that causes the syndrome.

Treatment

There is no cure for Shprintzen syndrome, but treatment can help manage the symptoms. This may include surgery to correct heart defects or cleft palate, speech therapy, educational support, and medication for behavioral problems.

Prognosis

The prognosis for individuals with Shprintzen syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with the syndrome can lead healthy, productive lives.

See also

• Genetic disorders
• Chromosome deletion
• Cleft palate
• Cardiac defects

NIH genetic and rare disease info

• NIH info on Shprintzen syndrome

Shprintzen syndrome is a rare disease.

Shprintzen syndrome Resources
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