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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
NIH genetic and rare disease info[edit source]
Holmes–Gang syndrome is a rare disease.
Holmes–Gang syndrome Resources | |
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Contributors: Prab R. Tumpati, MD