Term Name:	McKusick-Kaufman syndrome
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 )