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Yang, C. Cantú Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5143 (accessed on 25 July 2024).
Yang C. Cantú Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5143. Accessed July 25, 2024.
Yang, Catherine. "Cantú Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5143 (accessed July 25, 2024).
Yang, C. (2020, December 24). Cantú Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5143
Yang, Catherine. "Cantú Syndrome." Encyclopedia. Web. 24 December, 2020.
Cantú Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cantu-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.

genetic conditions

1. Introduction

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.

2. Frequency

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

3. Causes

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.

3.1. The Gene Associated with Cantú Syndrome

  • ABCC9

4. Inheritance

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.

5. Other Names for This Condition

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

References

  1. Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE,Castañeda V, Cantú JM. Congenital hypertrichosis, osteochondrodysplasia, andcardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet. 1997Mar 17;69(2):138-51.
  2. 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 ofthe cardiac manifestations. Am J Med Genet A. 2006 Aug 1;140(15):1673-80.
  3. 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, NijmanIJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Dominant missensemutations in ABCC9 cause Cantú syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi:10.1038/ng.2324.
  4. Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-DueñasM. Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis,osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct23;94(5):421-7. Review.
  5. Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A. Congenitalhypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J MedGenet. 1999 Aug 6;85(4):395-402.
  6. 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, SmithsonS. Cantú syndrome: report of nine new cases and expansion of the clinicalphenotype. Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885.
  7. van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, ReutterH, 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.
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Subjects: Genetics & Heredity
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Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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