Term Name: | McKusick-Kaufman syndrome |
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Synonyms: | HMCS, hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, hydrometrocolpos-postaxial polydactyly syndrome, Kaufman McKusick syndrome, MKKS |
Definition: | A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
Ontology: | Human Disease [DOID:0111255] ( DOID:0111255 ) |