Haim-Munk syndrome; keratosis palmoplantaris with periodontopathia; onychogryposis; Cochin Jewish disorder
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Genetics
- autosomal recessive
- associated with defects in CTSC
Clinical manifestations
- congenital palmoplantar keratosis
- pes planus
- onychogryphosis
- periodontosis
- arachnodactyly
- acroosteolysis
- nail involvement & other associated features suggested that this is a distinct disorder from Papillon-Lefevre syndrome