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McKusick-Kaufman syndrome
rareMcKusick-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.
- Identifiers
- MONDO:0009367 OMIM:236700Orphanet:2473
- Part of
- MKKS-related ciliopathyMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- HMCS · hydrometrocolpos-postaxial polydactyly syndrome · Kaufman McKusick syndrome · Kaufman-Mckusick syndrome · McKusick Kaufman syndrome
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