Haim-munk Syndrome
Description
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
Clinical Features
Top most frequent phenotypes and symptoms related to Haim-munk Syndrome
- Hyperkeratosis
- Pes planus
- Arachnodactyly
- Palmoplantar keratoderma
- Palmoplantar hyperkeratosis
- Periodontitis
- Osteolytic defects of the phalanges of the hand
- Thick nail
- Recurrent bacterial skin infections
- Severe periodontitis
And another 2 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including infantile onset .
Alternative names
Haim-munk Syndrome Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, palmoplantar keratoderma-periodontopathia-onychogryposis syndrome, keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, cochin jewish disorder, keratosis palmoplantaris with p.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Accelerate your rare disease diagnosis with us
Haim-munk Syndrome Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Lysosomal Storage Disease Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
 CTSC.
By Institute for Human Genetics University Clinic Freiburg (Germany).
CTSC
Specificity
100 %
Genes
100 % |
 CTSC. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CTSC
Specificity
100 %
Genes
100 % |
 Papillon-Lefevre syndrome (sequence analysis of CTSC gene).
By CGC Genetics (Portugal).
CTSC
Specificity
100 %
Genes
100 % |
|
Haim-Munk syndrome (sequence analysis of CTSC gene).
By CGC Genetics (Portugal).
CTSC
Specificity
100 %
Genes
100 % |
|
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
CTSC
Specificity
100 %
Genes
100 % |
|
Haim-Munk syndrome.
By Centogene AG - the Rare Disease Company (Germany).
CTSC
Specificity
100 %
Genes
100 % |
|
Papillon-Lefevre syndrome.
By Centogene AG - the Rare Disease Company (Germany).
CTSC
Specificity
100 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WEBB-DATTANI SYNDROME; WEDAS DYSTONIA 28, CHILDHOOD-ONSET; DYT28 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
