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Genetics Home Reference: your guide to understanding genetic conditions
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Cantú syndrome

Reviewed January 2013

What is Cantú syndrome?

Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.

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), and 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.

Many infants with Cantú syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with 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).

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, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.

How common is Cantú syndrome?

Cantú syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature.

What genes are related to Cantú syndrome?

Cantú syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the other features of Cantú syndrome.

Related Gene(s)

Changes in this gene are associated with Cantú syndrome.

  • ABCC9

How do people inherit Cantú syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder.

Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the mutation from one affected parent.

Where can I find information about diagnosis or management of Cantú syndrome?

These resources address the diagnosis or management of Cantú syndrome and may include treatment providers.

  • Gene Review: Cantú syndrome (http://www.ncbi.nlm.nih.gov/books/NBK246980)
  • Genetic Testing Registry: Hypertrichotic osteochondrodysplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0795905)

You might also find information on the diagnosis or management of Cantú syndrome in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Cantú syndrome?

You may find the following resources about Cantú syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Cantú syndrome?

  • Cantu syndrome
  • hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome
  • hypertrichotic osteochondrodysplasia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Cantú syndrome?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding Cantú syndrome?

aorta ; arteries ; artery ; ATP ; autosomal ; autosomal dominant ; bone density ; cell ; channel ; disability ; gene ; hypertension ; hypertrichosis ; hypotonia ; inherited ; ions ; lymphedema ; macrocephaly ; motor ; muscle tone ; mutation ; osteopenia ; patent ; potassium ; pulmonary ; pulmonary artery ; respiratory ; scoliosis ; subunit ; susceptibility ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE, Castañeda V, Cantú JM. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet. 1997 Mar 17;69(2):138-51. (http://www.ncbi.nlm.nih.gov/pubmed/9056550?dopt=Abstract)
  • Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A. 2006 Aug 1;140(15):1673-80. (http://www.ncbi.nlm.nih.gov/pubmed/16835932?dopt=Abstract)
  • Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. (http://www.ncbi.nlm.nih.gov/pubmed/22610116?dopt=Abstract)
  • Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-Dueñas M. Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct 23;94(5):421-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11050630?dopt=Abstract)
  • Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J Med Genet. 1999 Aug 6;85(4):395-402. (http://www.ncbi.nlm.nih.gov/pubmed/10398267?dopt=Abstract)
  • Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S. Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885. Epub 2011 Feb 22. (http://www.ncbi.nlm.nih.gov/pubmed/21344641?dopt=Abstract)
  • van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17. (http://www.ncbi.nlm.nih.gov/pubmed/22608503?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2013
Published: September 1, 2015