Lowry–MacLean syndrome

Lowry–MacLean syndrome is a rare genetic disorder characterized by intellectual disability, short stature, and distinctive facial features. The syndrome was first described by Lowry and MacLean in 1977.

Etymology

The syndrome is named after the two doctors who first described it, Dr. Robert Brian Lowry and Dr. J. Roger MacLean.

Symptoms and Signs

Patients with Lowry–MacLean syndrome typically present with intellectual disability, short stature, and distinctive facial features. These facial features may include a broad forehead, deep-set eyes, a small nose with a broad bridge, and a thin upper lip. Other symptoms may include skeletal abnormalities, such as short fingers and toes, and heart defects.

Causes

Lowry–MacLean syndrome is a genetic disorder, which means it is caused by abnormalities in the genes. It is thought to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene for a child to be affected.

Diagnosis

Diagnosis of Lowry–MacLean syndrome is based on the presence of characteristic clinical features. Genetic testing may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Lowry–MacLean syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, occupational therapy, and special education services for those with intellectual disability.

Prognosis

The prognosis for individuals with Lowry–MacLean syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications from the syndrome.

See Also

• Genetic disorder
• Intellectual disability
• Short stature
• Autosomal recessive inheritance

References

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