Haim-Munk syndrome

(redirected from Cochin Jewish disorder)

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.
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References in periodicals archive ?
In 1965, Dr Haim (Dermatologist) and Dr Munk (Radiologist) reported a rare congenital type of genodermatosis called Cochin Jewish disorder in four siblings of a Jewish religious isolate from Cochin India on the Malabar Coast, later known as Haim Munk Syndrome.1,2