Preferred Label : Haim-Monk syndrome;
Définition CISMeF : Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization
characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis,
onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline
mutations in the lysosomal protease cathepsin C gene have been identified as the underlying
genetic defect in Haim-Munk syndrome and in the clinically related disorders, such
as Papillon-Lefèvre syndrome and prepubertal periodontitis. J Indian Soc Periodontolv.14(3);
Jul-Sep 2010 PMC3100867;
UMLS semantic type : T047 - Disease or Syndrome;
Origin ID : M0533272;
UMLS CUI : C2713394;
Related record
- Semantic type(s)
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization
characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis,
onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline
mutations in the lysosomal protease cathepsin C gene have been identified as the underlying
genetic defect in Haim-Munk syndrome and in the clinically related disorders, such
as Papillon-Lefèvre syndrome and prepubertal periodontitis. J Indian Soc Periodontolv.14(3);
Jul-Sep 2010 PMC3100867
