Guizar–Vasquez–Sanchez–Manzano syndrome
Guizar–Vasquez–Sanchez–Manzano syndrome is a rare genetic disorder characterized by a variety of physical and developmental abnormalities. It was first described by the Mexican physicians Guizar, Vasquez, Sanchez, and Manzano in 1982.
Symptoms and Signs[edit | edit source]
The syndrome is characterized by a range of symptoms, including microcephaly (small head size), intellectual disability, seizures, and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Other features may include congenital heart defects, hearing loss, and abnormalities of the hands and feet.
Genetics[edit | edit source]
Guizar–Vasquez–Sanchez–Manzano syndrome is thought to be an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The exact gene responsible for the syndrome has not yet been identified.
Diagnosis[edit | edit source]
Diagnosis of Guizar–Vasquez–Sanchez–Manzano syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and to identify carriers of the disorder.
Treatment[edit | edit source]
There is currently no cure for Guizar–Vasquez–Sanchez–Manzano syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, special education, and treatment for seizures and heart defects.
Prognosis[edit | edit source]
The prognosis for individuals with Guizar–Vasquez–Sanchez–Manzano syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications such as heart defects or severe intellectual disability.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Guizar–Vasquez–Sanchez–Manzano syndrome is a rare disease.
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