Gomez-Lopez-Hernandez syndrome (GLHS)

What is Gomez-Lopez-Hernandez syndrome (GLHS)?

This rare disease is a genetic syndrome, the causes of which are still being researched.

The main symptoms of the syndrome include alopecia (complete or partial), numbness of the face, sinuses and mouth (trigeminal anesthesia) and a brain abnormality (rhombencephalosynapsis).

What gene changes cause Gomez-Lopez-Hernandez syndrome (GLHS)?

The exact gene change responsible for causing the syndrome is yet unknown. It is believed it may be inherited in an autosomal recessive pattern but this is yet to be confirmed.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Gomez-Lopez-Hernandez syndrome (GLHS)?

Alopecia is a defining symptom of the syndrome. The hair loss on the scalp may be partial or full.

Another main symptom is a condition known as trigeminal anesthesia: this is a numbness of the face, sinuses and mouth.

The third main condition is known as rhombencephalosynapsis. This is a brain condition where the cerebellar vermis, or the connecting area between the two hemispheres of the brain is missing.

Other symptoms may include low muscle tone (hypotonia), behavioral issues, intellectual disability, seizures, a short stature, a short and broad skull, low set ears and decreased pain sensation.

How does someone get tested for Gomez-Lopez-Hernandez syndrome (GLHS)?

The initial diagnosis of Gomez Lopez Hernandez can begin with facial analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination.

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