Haim-Munk syndrome
Findings
No curated finding names Haim-Munk syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
Definition from the Mondo Disease Ontology (MONDO:0009491), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- PeriodontitisHPOHP:0000704
- Very frequent (80% to 99% of cases)
- Acroosteolysis of distal phalanges (feet)HPOHP:0001870
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- OnychogryphosisHPOHP:0001805
- Frequent (30% to 79% of cases)
- Osteolytic defects of the phalanges of the handHPOHP:0009771
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
- Alveolar bone loss around teethHPOHP:0410027
- Occasional (5% to 29% of cases)
- Dry skinHPOHP:0000958
- Occasional (5% to 29% of cases)
- Flexion contracture of fingerHPOHP:0012785
- Occasional (5% to 29% of cases)
Show the remaining 5
- Flexion contracture of toeHPOHP:0005830
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Nail pitsHPOHP:0001803
- Occasional (5% to 29% of cases)
- Premature loss of primary teethHPOHP:0006323
- Occasional (5% to 29% of cases)
- Recurrent skin infectionsHPOHP:0001581
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTSCHGNC:2528
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
3 names
Resolves to: Haim-Munk syndrome
- Also called
- keratosis palmoplantaris-periodontopathia-onychogryposis syndromepalmoplantar hyperkeratosis-periodontopathia-onychogryposis syndromepalmoplantar keratoderma-periodontopathia-onychogryposis syndrome