McKusick Kaufman syndrome [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C538159

Heading Mapped to:

• Abnormalities, Multiple
• Heart Defects, Congenital
• Uterine Diseases
• Polydactyly
• Hydrocolpos

Entry Terms:

• Kaufman McKusick syndrome
• Hydrometrocolpos syndrome
• Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
• Mckusick-Kaufman Syndrome
• Kaufman-Mckusick Syndrome