Mckusick-Kaufman Syndrome Watchlist (log in to enable) Retrieved 2021-01-23 Source Orphanet Trials — Genes MKKS, ADRB2, JAG1, BBS2, HSP90AA1, LEPR, MC5R, ST13, STUB1, MKS1 Drugs — Interested in hearing about new therapies? Registered! McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.