Haim-Munk syndrome
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Haim-Munk syndrome
An autosomal recessive disorder (OMIM:245010) characterised by palmoplantar keratosis, onychogryphosis and periodontitis, pes planus, arachnodactyly, and acroosteolysis.Molecular pathology
Defects in CTSC, which encodes cathepsin C, a ubiquitous lysosomal cysteine proteinase, cause Haim-Munk syndrome.