primary hypertrophic osteoarthropathy
Findings
No curated finding names primary hypertrophic osteoarthropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
Definition from the Mondo Disease Ontology (MONDO:0016620), read 2026-09-29. CC BY 4.0.
Features
50 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.
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- ClubbingHPOHP:0001217
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- OsteomyelitisHPOHP:0002754
- Very frequent (80% to 99% of cases)
- Seborrheic dermatitisHPOHP:0001051
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormal hair quantityHPOHP:0011362
- Frequent (30% to 79% of cases)
- AcneHPOHP:0001061
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
Show the remaining 38
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- Clubbing of toesHPOHP:0100760
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Cutis gyrata of scalpHPOHP:0010541
- Frequent (30% to 79% of cases)
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
Other names
10 names
Resolves to: primary hypertrophic osteoarthropathy
- Also called
- hypertrophic osteoarthropathy, primaryhypertrophic osteoarthropathy, primary, autosomal recessive, type 1hypertropic osteoarthropathy, primaryidiopathic hypertrophic osteoarthropathypachydermoperiostosispachydermoperiostosis of nail [ambiguous]PDPPHOTouraine Solente Gole syndromeTouraine-Solente-Gole syndrome