Cantú syndrome
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less 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.
| Cantú syndrome | |
|---|---|
| Other names | Hypertrychotic osteochondrodysplasia |
| Cantú syndrome is inherited via an autosomal dominant manner | |
| Symptoms | Cardiomegaly |
| Causes | Mutation in ABCC9 gene |
| Diagnostic method | Echocardiogram, X-ray |
| Treatment | Scoliosis is managed via bracing |
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