Haim-Munk syndrome is a skin disease caused by a mutation in the cathepsin C gene, the same gene involved in Papillon-Lefevre syndrome. It is also known as palmoplantar keratoderma with periodontitis and arachnodactyly, acro-osteolysis, and as Cochin Jewish syndrome. One of its features is thick, curved fingernails and toenails. The condition is named for Salim Haim and J. Munk, who first described the disease in 1965. The source lead is short, so this record limits itself to the cause, the alternative names, the nail feature and the naming history it supports.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Haim-Munk syndrome (Wikipedia)
Lead paragraph
is a skin disease
Lead paragraph [causative-agent-category]
by a mutation in the cathepsin C gene
Lead paragraph [first-described-year]
first described the disease in 1965
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2342 Haim-Munk syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q82.8", "Source": "ICD-10"
3. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2342Quote, ORPHA:2342
Point prevalence Class only <1 / 1 000 000
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