Jacobs Journal of Internal Medicine

Analysis of Clinical Characters of Cantu Syndrome: Etiology and High Penetrance of Cardiovascular Phenotypes

*Lijiang Ma
Department Of Pediatrics And Medicine, Columbia University, New York, United States

*Corresponding Author:
Lijiang Ma
Department Of Pediatrics And Medicine, Columbia University, New York, United States

Published on: 2015-12-07


Background: Cantu syndrome is characterized by hypertrichosis, distinct facial features, cardiovascular abnormalities and a wide variety of phenotypes in many other organs and systems. This study is to illustrate clinical characters of Cantu syndrome in cardiovascular system and to investigate etiology of this disease.

Methods: Cantu syndrome cases were searched from PubMed. Clinical data were collected from previous reports. Descriptive analysis was conducted to study clinical characters of Cantu syndrome patients especially in cardiovascular system. Fisher’s exact test was used to examine if age of parents played a role in disease occurrence.

Results: 60 Cantu syndrome patients were studied. 56/60 (93%) had congenital heart disease and/or cardiac diseases, including patent ductus arteriosus, atrial septal defect, coarctation of the aorta, bicuspid aortic valve, aortic stenosis, pulmonary stenosis, aortopulmonary collateral artery, partial anomalous pulmonary venous return, cardiomegaly, hypertrophic/dilated/noncompaction cardiomyopathy, pericardial effusion or heart failure. 10/60 (16.7%) patients developed transient or persistent pulmonary hypertension. Most of the cases were sporadic. More patients were born to father at age>35 when compared with normal population and the result was statistically significant. 3 (5%) patients died in infancy or in childhood while 57 patients were alive during last follow up. More than half of the patients were seen in 0-10 age group.

Conclusions: The disease presented a wide variety of clinical presentations and different severity. Besides hypertrichosis and osteochondrodysplasia, there was high penetrance of cardiovascular phenotypes. Some of the clinical manifestations resolved spontaneously. Patients were more frequently observed in 0-10 age group in the clinic. Advanced father’s age played a role in disease occurrence.


Genetics; Cardiovascular; ABCC9


Cantu syndrome, also called hypertrichotic osteochondrodysplasia, is a rare congenital systemic disease which was first recognized in Mexico in 1982 [1]. More cases were reported to further delineate this genetic syndrome [2,3]. Clinical manifestations were varied and the disease has been mistaken for acromegaloid facial appearance syndrome, hypertrichosis with acromegaloid facial appearance syndrome [4], or hypothyroidism [5]. Most of the patients presented hypertrichosis, coarse face, cardiomegaly and osteochondrodysplasia. Neonatal macrosomia, history of maternal polyhydramnios, psychomotor developmental delay, skin abnormality such as pigmentation or loose skin, abnormal blood vessels, lymph edema, anemia, hepatomegaly, pyloric stenosis and immune deficiency were less frequent presentations [5].