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GTR Home > Conditions/Phenotypes > Haim-Munk syndrome

Haim-Munk syndrome

Synonyms
Cochin Jewish disorder; Keratosis palmoplantaris with periodontopathia and onychogryposis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS, CTSC
    Summary: cathepsin C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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