This is a genetic condition characterized by the excess hair growth of the body, coarse facial features, enlarged heart, abnormal bone structures and other cardiac problems. This is a rare condition and although the true prevalence of this syndrome is not known, less than 50 cases are reported in the scientific literature.
Causes
This is inherited in an autosomal dominant pattern meaning one copy of the defective gene is sufficient to cause this condition. However, most cases have been identified as the result of a new mutation in the gene with no history of this syndrome prevalent in the family.
The gene ABCC9 is responsible for the cause of cantu syndrome. In healthy people, this gene provides the information for producing a part of the channel that delivers the charged potassium ions over the cell membranes. The defective gene impairs the structure of the potassium channel resulting in the individual developing the various symptoms associated with the cantu syndrome.
Symptoms
The general features include infants born larger than the normal size (neonatal macrosomia), swelling of the body from excess fluid (neonatal edema) and the presence of a large head (macrocephaly). Most of the affected cases present distinctive coarse facial features that include the broad nasal bridge, nostrils that are turned upward, a large tongue (macroglossia), high palate and skin folds covering the inner corner of the eyes (epicanthal folds). These cases are born with the congenital generalized hirsutism that consists of the excess hair growth all over the body. The skeletal abnormalities can include the thick skull bone, thick ribs, underdeveloped pelvic bones, deformity of the hip, the curvature of the spine and delayed bone age. In addition, the cardiovascular problems can consist of enlarged heart or patent ductus arteriosus (PDA). This is the connection between the aorta and the pulmonary artery which is normally open during fetal development and should close after the birth. However, infants with cantu syndrome, the ductus arteriosus may be open. The other heart abnormalities consist of the thickening of the heart’s muscular walls, mitral valve regurgitation, abnormal fluid accumulation around the heart and pulmonary hypertension. The other features can include the high risk of respiratory infections and weak muscle tone (hypotonia) that affects the normal motor skills such as walking, sitting and standing. Most of the affected individuals exhibit mild intellectual disability, delayed speech and problems with learning.
Diagnosis
There are no specific tests available to diagnose this condition. The diagnosis is usually assessed in the suspected cases with a physical examination, evaluation of medical history and in the identification of features that are characteristic of this syndrome. The suggestive findings for this syndrome include the excess body hair growth, facial anomalies, enlarged heart and the x-ray findings of the skeletal abnormalities. The diagnosis of the cantu syndrome can be confirmed after establishing the characteristic clinical features and in the detection of the mutated gene responsible for this condition.
Treatment
There is no cure for the cantu syndrome. The treatment is based on the management of the various symptoms associated with this condition and in the surveillance of the patients to prevent the complications from developing. Few of the possible treatment can include the shaving or laser removal of the excess hair, surgical closure of PDA in infants and the treatment of curved spine with surgery or bracing. The cardiology assessment involves the echocardiogram and electrocardiogram that seeks to identify abnormalities of the heart.
References
https://www.ncbi.nlm.nih.gov/books/NBK246980/#cantu.Management
https://ghr.nlm.nih.gov/condition/cantu-syndrome#synonyms
http://cantu.wustl.edu/glossary.html
