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McKusick Kaufman syndrome MeSH Supplementary Concept Data 2025


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
Registry Numbers
0
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 Preferred
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