Cayler syndrome

Cayler Syndrome is a rare genetic disorder characterized by a wide range of physical and developmental abnormalities. It is also known as Cayler Cardiofacial Syndrome due to its association with heart and facial abnormalities.

Overview

Cayler Syndrome is a subtype of 22q11.2 deletion syndrome, a group of disorders caused by the deletion of a small piece of chromosome 22 near the middle of the chromosome at a location designated q11.2. The syndrome is named after Dr. George Cayler, who first described the condition in 1969.

Symptoms

The most common symptom of Cayler Syndrome is asymmetrical crying facies (ACF), a condition in which the lower lip droops on one side while the child cries or smiles. Other symptoms may include heart defects, learning difficulties, and other physical abnormalities.

Causes

Cayler Syndrome is caused by a deletion of genetic material in the chromosome 22 at the q11.2 location. This deletion occurs very early in the development of an embryo and it is not inherited from the parents.

Diagnosis

Diagnosis of Cayler Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying the chromosomal deletion.

Treatment

Treatment for Cayler Syndrome is symptomatic and supportive. It may include surgery for heart defects, speech therapy for language delays, and special education for learning difficulties.

See also

• 22q11.2 deletion syndrome
• Genetic disorder
• Chromosome 22

NIH genetic and rare disease info

• NIH info on Cayler syndrome

Cayler syndrome is a rare disease.

Cayler syndrome Resources
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