ORPHA:2342
Haim-Munk syndrome
Synonyms: Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome · Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Haim-Munk syndrome | Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome · Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome |
| fr | Syndrome de Haim-Munk | Syndrome d'hyperkératose palmoplantaire-périodontopathie-onychogrypose · Syndrome de kératodermie palmoplantaire-périodontopathie-onychogrypose |
| de | Haim-Munk-Syndrom | Keratosis palmoplantaris - Parodontopathie - Onychogryposis · Keratosis palmoplantaris diffusa mit Periodontopathie und Onychogrypose · Palmoplantarhyperkeratose - Parodontopathie - Onychogryposis |
| es | Síndrome de Haim-Munk | Hiperqueratosis palmoplantar-periodontopatía-onicogriposis · Queratodermia palmoplantar-periodontopatía-onicogriposis · Queratosis palmoplantar-periodontopatía-onicogriposis |
| it | Sindrome di Haim-Munk | Cheratoderma palmoplantare - periodontopatia - onicogriposi · Cheratosi palmoplantare - periodontopatia - onicogriposi · Ipercheratosi palmoplantare - periodontopatia - onicogriposi |
| nl | Syndroom van Haim-Munk | Haim-Munksyndroom · Hyperkeratose van handpalm of voetzool - periodontopathie - onychogrypose-syndroom · Keratodermie van handpalm of voetzool - periodontopathie - onychogrypose-syndroom · Keratosis palmoplantaris - periodontopathie - onychogrypose-syndroom · Palmoplantaire hyperkeratose - periodontopathie - onychogrypose-syndroom · Palmoplantaire keratodermie - periodontopathie - onychogrypose-syndroom |
| pt | Síndrome Haim-Munk | Queratose palmo-plantar-periodontopatia-onicogripose |
| pl | Zespół Haima i Munka | Hiperkeratoza dłoni i stóp - periodontopatia - onychogrypoza · Rogowiec dłoni i stóp - periodontopatia - onychogrypoza · Rogowiec dłoni i stóp - periodontopatia - onychogrypoza |
| cs | Haimův-Munkův syndrom | Syndrom zahrnující palmoplantární keratózu, periodontopatii a onychogrypózu · Syndrom zahrnující palmoplantární hyperkeratózu, periodontopatii a onychogrypózu · Syndrom zahrnující palmoplantární keratoderma, periodontopatii a onychogrypózu · Haim-Munkův syndrom |
| uk | Синдром Хаїма-Мунка | Синдром долонно-піднебінного кератозу-періодонтопатії-оніхогрипозу · Синдром долонно-підошовного гіперкератозу-періодонтопатії-оніхогрипозу · Синдром долонно-підошовної кератодермії-періодонтопатії-оніхогрипозу |
| zh | Haim-Munk综合征 | 掌跖角化过度-牙周病-甲弯曲综合征 |
| tr | Haim-Munk sendromu | Keratoz palmoplantaris-periodontopati-onikogripozis sendromu · Palmoplantar keratoderma-periodontopati-onikogripozis sendromu · Palmoplantar hiperkeratoz-periodontopati-onikogripozis sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245010 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | attributed | validated |
| MONDO | 0009491 | E | validated | |
| MeSH | C537627 | E | validated | |
| UMLS | C1855627 | E | validated | |
| GARD | 44 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:309340Disorder of lysosomal-related organelles
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSC | Disease-causing germline mutation(s) in | Assessed | HGNC:2528 | ENSG00000109861 | 602365 | 11q14.2 | cathepsin C | 10662807[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2025-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000704 | Periodontitis | |
| Frequent (79-30%) | ||
| HP:0001870 | Acroosteolysis of distal phalanges (feet) | |
| HP:0001166 | Arachnodactyly | |
| HP:0000670 | Carious teeth | |
| HP:0001805 | Onychogryphosis | |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0001763 | Pes planus | |
| Occasional (29-5%) | ||
| HP:0410027 | Alveolar bone loss around teeth | |
| HP:0000958 | Dry skin | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0001288 | Gait disturbance | |
| HP:0001803 | Nail pits | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0001581 | Recurrent skin infections | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21760678[PMID]_34603725[PMID]_31846207[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2342
- This record as JSON: /data/d/2342.json