Gomez and López-Hernández syndrome
Gomez and López-Hernández syndrome is a rare genetic disorder characterized by a variety of physical and neurological abnormalities. It was first described by the medical researchers Dr. Gomez and Dr. López-Hernández in the late 20th century.
Symptoms and Signs[edit | edit source]
The syndrome is characterized by a wide range of symptoms, including intellectual disability, seizures, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features. Other symptoms may include growth retardation, hearing loss, and vision problems. The severity of these symptoms can vary greatly among affected individuals.
Causes[edit | edit source]
Gomez and López-Hernández syndrome is caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein that is involved in the regulation of cell division and cell growth. Mutations in the TBC1D24 gene disrupt the normal function of this protein, leading to the various symptoms associated with the syndrome.
Diagnosis[edit | edit source]
Diagnosis of Gomez and López-Hernández syndrome is based on the presence of characteristic clinical features and confirmed by genetic testing to identify mutations in the TBC1D24 gene.
Treatment[edit | edit source]
There is currently no cure for Gomez and López-Hernández syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help manage the symptoms and improve the quality of life for affected individuals.
Prognosis[edit | edit source]
The prognosis for individuals with Gomez and López-Hernández syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications of the disorder.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Gomez and López-Hernández syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
