McKusick-Kaufman syndrome
Autosomal recessive disease.
Synopsis
Hirschsprung disease (12%)
imperforate anus (8%)
imperforate vagina (hydrometrocolpos)
hydronephrosis
postaxial polydactyly
cardiac malformations
hydrops fetalis
overlap with BBS (MIM.209900)
Etiology
Germline mutations in MKKS (BBS6) gene at 20p12 (MIM.604896), a protein with similarity to members of the chaperonin family
- also mutated in Bardet-Biedl syndrome-6 (BBS6) (MIM.209900)
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