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Cantu syndrome [Supplementary Concept]

A rare hereditary autosomal dominant disorder characterized by congenital hypertrichosis, FETAL MACROSOMIA, a distinct osteochondrodysplasia, and cardiomegaly; additional HEART ABNORMALITIES are present in approximately 80% of cases. Motor development is usually delayed due to HYPOTONIA, most patients have a mild SPEECH DELAY, and a small percentage have LEARNING DISORDERS or INTELLECTUAL DISABILITY. Mutations in the ABCC9 gene have been identified. OMIM: 239850

Date introduced: August 25, 2010

MeSH Unique ID: C535572

Heading Mapped to:

Entry Terms:

  • Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome
  • Hypertrichotic osteochondrodysplasia

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