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Haim-Munk syndrome; keratosis palmoplantaris with periodontopathia; onychogryposis; Cochin Jewish disorder

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

Related

Papillon-Lefevre syndrome (keratosis palmoplantaris with periodontopathia)

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 245010

References

  1. OMIM :accession 245010
  2. UniProt :accession P53634