What is Cantú syndrome?
Cantú syndrome is an extremely rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. However, the specific features of the disorder vary among the affected individuals.
Many infants with Cantú syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). Other heart problems have also been found in people with Cantú syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).
Less than 50 cases have been described to date.
What are the symptoms of Cantú syndrome?
People with Cantú syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs.
Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as “coarse.” These include:
- A broad nasal bridge
- Skin folds covering the inner corner of the eyes (epicanthal folds)
- A wide mouth with full lips.
As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.
Additional features of this condition include:
- Distinctive skeletal abnormalities
- A large body size (macrosomia) at birth
- A reduced amount of fat under the skin (subcutaneous fat) beginning in childhood
- Deep horizontal creases in the palms of the hands and soles of the feet
- Increased susceptibility to respiratory infections
- Abnormal swelling in the body’s tissues (lymphedema)
- Reduced bone density (osteopenia)
- Weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking
- Mildly delayed speech and intellectual disability or learning problems.
What causes Cantú syndrome?
Cantú syndrome appears to be an inherited autosomal genetic disorder, affected by the ABCC9 gene that codes for the ABCC9-protein.
How is Cantú syndrome diagnosed?
After a thorough patient history, clinical evaluation, and observation of the various signs and symptoms of the disease, a Cantú syndrome diagnosis can be confirmed by genetic testing or imaging tests, such as an echocardiogram or X-ray.
What are the available treatments for Cantú syndrome?
The symptoms of Cantú syndrome can be treated, but the disease itself cannot yet be cured.
These possible symptomatic and supportive treatments may include use of depilatories or laser hair removal, and surgery or bracing. In addition to these, regular echocardiograms are needed for monitoring patients.