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.