Cantú syndrome

Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia and cardiomegaly.[1][2][3] Less than 50 cases have been described in the literature. A majority of the cases is associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.

History

This condition was first described by José María Cantú Garza et al. in 1982.[4]

Clinical features

There is a characteristic facies.[5]

The cardiac manifestations include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension and pericardial effusions.

Neuro-developmental outcome appears to be normal. However obsessive traits and anxiety have been reported.

It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding. Additional possible associations include lymphoedema and heterochromia iridis.[6]

Aetiology

Cantu et al. suggested that this condition was inherited in an autosomal dominant fashion. This has since been confirmed.[7] A possible link to a region on chromosome 4 (4q26-27) has been reported.[3]

See also

References

  1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  2. ↑ Engels H, Bosse K, Ehrbrecht A, et al. (August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. 111 (2): 205–9. doi:10.1002/ajmg.10560. PMID 12210352.
  3. 1 2 Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM. "Copy Number Variations on Chromosome 4q26-27 Are Associated with Cantu Syndrome.". Dermatology. 223: 316–320. doi:10.1159/000333800.
  4. ↑ Cantú JM, Sánchez-Corona J, Hernándes A, Nazará Z, García-Cruz D (1982). "Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies". Clin Genet. 22 (4): 172–179. doi:10.1111/j.1399-0004.1982.tb01431.x.
  5. ↑ 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 (2011). "Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype". Am J Med Genet Part A. 155: 508–518. doi:10.1002/ajmg.a.33885.
  6. ↑ García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PK, Ramirez-Garcia S, Sanchez-Corona J (2011). "Cantu syndrome and lymphoedema". Clin Dysmorphol. 20 (1): 32–37.
  7. ↑ Grange DK, Lorch SM, Cole PL, Singh GK (2006). "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. 140 (15): 1673–1680.

External links

Link to the Cantu Syndrome Interest Group website - for all interested patients, clinicians and researchers.

Link to the Gene Reviews summary of Cantu Syndrome by giving information about disease characteristics, diagnosis/testing, management, and genetics counseling.

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