Holmes–Gang syndrome

Holmes–Gang syndrome is a rare genetic disorder characterized by a variety of physical and neurological abnormalities. The syndrome was first described by Dr. Robert Holmes and Dr. John Gang in the late 20th century.

Symptoms and Signs

The symptoms of Holmes–Gang syndrome can vary greatly among affected individuals. Common symptoms include intellectual disability, seizures, microcephaly (small head size), and distinctive facial features such as a prominent forehead, deep-set eyes, and a small jaw. Some individuals may also have hearing loss, vision problems, and abnormalities of the heart, kidneys, or other organs.

Causes

Holmes–Gang syndrome is caused by mutations in a specific gene. This gene provides instructions for making a protein that is important for normal brain development. When this gene is mutated, the protein it produces is faulty or absent, leading to the symptoms of the syndrome.

Diagnosis

Diagnosis of Holmes–Gang syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the specific gene associated with the syndrome.

Treatment

There is currently no cure for Holmes–Gang syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy to help improve motor skills and communication abilities. Medications may be used to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Holmes–Gang syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management of their symptoms, while others may have a shortened lifespan due to complications such as severe seizures or organ abnormalities.

See Also

• List of genetic disorders
• Genetic testing
• Seizures
• Microcephaly

NIH genetic and rare disease info

• NIH info on Holmes–Gang syndrome

Holmes–Gang syndrome is a rare disease.

Holmes–Gang syndrome Resources
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