MeSH Browser

MeSH Supplementary: McKusick Kaufman syndrome
Unique ID: C538159
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538159
Entry Term(s): Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; Kaufman McKusick syndrome; Kaufman-Mckusick Syndrome; Mckusick-Kaufman Syndrome
Heading Mapped to: *Abnormalities, Multiple; *Heart Defects, Congenital; *Uterine Diseases; *Polydactyly; *Hydrocolpos
Frequency: 29
Note: A hereditary autosomal recessive disorder characterized by genitourinary malformations, especially hydrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations. Mutations in the MKKS gene have been identified. OMIM: 236700
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

McKusick Kaufman syndrome MeSH Supplementary Concept Data 2024