Guizar–Vasquez–Sanchez–Manzano syndrome

Guizar–Vasquez–Sanchez–Manzano syndrome
Synonyms	GVSMS
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Intellectual disability, short stature, facial dysmorphism, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Other genetic syndromes
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	N/A
Frequency	Rare disease
Deaths	N/A

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

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

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

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

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

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

• List of genetic disorders
• Autosomal recessive inheritance
• Microcephaly
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Guizar–Vasquez–Sanchez–Manzano syndrome

Guizar–Vasquez–Sanchez–Manzano syndrome is a rare disease.