Cantú syndrome

Cantú syndrome
Other namesHypertrychotic osteochondrodysplasia
This photo shows a person with Cantú syndrome, who has coarse facial features that are characteristic of this syndrome.
SymptomsCardiomegaly
CausesMutation in ABCC9 gene
Diagnostic methodEchocardiogram, X-ray
TreatmentScoliosis is managed via bracing

Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Fewer than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.

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