Cantú syndrome

Overview

Cantú syndrome is a rare genetic disorder characterized by a combination of distinctive physical features, excessive hair growth (hypertrichosis), heart abnormalities, and skeletal changes. It was first described in the early 1980s and is also known as hypertrichotic osteochondrodysplasia. Affected individuals typically have coarse facial features, wide ribs, and enlarged heart or blood vessels. Although symptoms can vary widely, the condition is generally present from birth and may affect multiple body systems throughout life.

Causes

Cantú syndrome is caused by mutations in the ABCC9 gene and, less commonly, the KCNJ8 gene. Both genes encode proteins involved in potassium channels, which regulate cellular electrical activity, especially in the heart, blood vessels, and other tissues. Mutations in these genes lead to overactivity of potassium channels, affecting the development and function of several organ systems. Cantú syndrome is inherited in an autosomal dominant manner, meaning only one copy of the mutated gene is needed to cause the disorder. However, most cases occur due to new (de novo) mutations not inherited from a parent.

Symptoms

The symptoms of Cantú syndrome vary in severity and may include:

• Hypertrichosis: Excessive hair growth, especially on the forehead, back, and limbs

• Coarse facial features: Including a broad nose, prominent forehead, and large lips

• Cardiovascular anomalies:

  • Enlarged heart (cardiomegaly)

  • Patent ductus arteriosus (PDA) or other congenital heart defects

  • Enlarged or tortuous blood vessels

• Skeletal abnormalities: Including broad ribs, scoliosis, joint hypermobility, or delayed bone development

• Macrocephaly: Enlarged head circumference

• Edema: Swelling of the hands and feet in infancy

• Developmental delays: Mild motor or speech delays may be present in some individuals

Despite the visible physical differences, intelligence is typically within the normal range in many patients, although learning difficulties can occasionally occur.

Diagnosis

Diagnosis of Cantú syndrome is based on clinical features and confirmed by genetic testing. Diagnostic steps include:

• Clinical evaluation: Identification of hallmark physical signs such as hypertrichosis, coarse facial features, and cardiovascular findings

• Echocardiogram and cardiac imaging: To assess for heart enlargement and blood vessel abnormalities

• X-rays or bone imaging: To detect skeletal abnormalities

• Genetic testing: Detection of mutations in the ABCC9 or KCNJ8 genes confirms the diagnosis

• Family history: Though most cases are sporadic, identifying a pattern may aid diagnosis

Treatment

There is no cure for Cantú syndrome, and treatment focuses on managing symptoms and monitoring affected organ systems. A multidisciplinary team is often needed. Treatment may include:

• Cardiology management: Monitoring heart size and function, treating any structural heart defects or blood vessel issues

• Dermatology care: Cosmetic or laser treatment for hypertrichosis, if desired

• Orthopedic care: Managing skeletal abnormalities, scoliosis, or joint issues

• Physical and occupational therapy: To support motor development and address joint flexibility

• Developmental support: Speech and educational therapy if developmental delays are present

• Regular follow-up: Lifelong monitoring for heart and vascular health is essential

Prognosis

The prognosis for individuals with Cantú syndrome depends on the severity of associated complications, particularly heart and vascular issues. With proper medical care and regular monitoring, many individuals can lead active lives. Physical differences and excessive hair growth may affect self-esteem, but these do not usually impair physical health. Since the condition is rare and still being studied, long-term outcomes continue to be better understood as more cases are reported and research advances.