McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation)

Genetics

• autosomal recessive
• mutation in MKKS gene on chromosome 20p12

Clinical manifestations

• hydrometrocolpos
• postaxial polydactyly
• congenital heart defects

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Bardet-Biedl syndrome 6 protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, BBS6)

Database

• OMIM: https://mirror.omim.org/entry/236700
• OMIM: https://mirror.omim.org/entry/604896