Cantú syndrome

Cantú syndrome
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Synonyms	Hypertrichotic osteochondrodysplasia
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Cantú syndrome is a rare genetic disorder characterized by hypertrichosis, osteochondrodysplasia, and cardiovascular abnormalities. It is also known as hypertrichotic osteochondrodysplasia.

Signs and Symptoms

Individuals with Cantú syndrome typically present with excessive hair growth (hypertrichosis), distinctive facial features, cardiomegaly (enlarged heart), and skeletal abnormalities. Other symptoms may include macrocephaly (large head size), edema (swelling), and developmental delay.

Genetics

Cantú syndrome is caused by mutations in the ABCC9 gene, which encodes the sulfonylurea receptor 2 (SUR2), a component of ATP-sensitive potassium channels. These mutations lead to dysregulation of potassium ion flow, affecting various bodily systems.

Diagnosis

Diagnosis of Cantú syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the ABCC9 gene. Genetic counseling is recommended for affected families.

Treatment

There is no cure for Cantú syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including cardiologists, endocrinologists, and geneticists. Regular monitoring of cardiovascular health is crucial.

Epidemiology

Cantú syndrome is extremely rare, with fewer than 50 cases reported in the medical literature. It affects both males and females equally.

See Also

• Genetic disorder
• Hypertrichosis
• Osteochondrodysplasia

External Links

• Orphanet: Cantú syndrome
• Genetic and Rare Diseases Information Center: Cantú syndrome