MeSH Browser

MeSH Supplementary: Cantu syndrome
Unique ID: C535572
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535572
Entry Term(s): Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome; Hypertrichotic osteochondrodysplasia
Registry Number: 0
Heading Mapped to: *Cardiomegaly; *Hypertrichosis; *Osteochondrodysplasias
Frequency: 58
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/17

Cantu syndrome MeSH Supplementary Concept Data 2023