1p36 deletion syndrome

1p36 Deletion Syndrome is a chromosome disorder that typically results in severe intellectual disability. Most people with 1p36 deletion syndrome have weak muscle tone (hypotonia) and a small head size (microcephaly).

Signs and Symptoms

Most individuals with 1p36 Deletion Syndrome have intellectual disabilities and delayed development. Other common features include a small head size, unusually shaped ears, a short neck, and distinctive facial features such as a flat nasal bridge, a wide, square-shaped face, deep-set eyes, a thin upper lip, and a pointed chin.

Causes

1p36 Deletion Syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. This deletion occurs near the end of the chromosome at a location designated p36.

Diagnosis

Diagnosis of 1p36 Deletion Syndrome is based on clinical features and confirmed by genetic testing. This testing can identify a deletion in the 1p36 region of chromosome 1.

Treatment

Treatment of 1p36 Deletion Syndrome is symptomatic and supportive. It may include physical, occupational, and speech therapy, and educational services.

Prognosis

The prognosis for individuals with 1p36 Deletion Syndrome varies depending on the size and location of the deletion and the presence and severity of health problems.

Epidemiology

1p36 Deletion Syndrome is estimated to occur in 1 in 5,000 to 10,000 births.

See Also

• Chromosome disorders
• Intellectual disability
• Microcephaly
• Hypotonia

External Links

• WikiMD

1p36 deletion syndrome Resources
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