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