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
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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.
