cranio-osteoarthropathy
Findings
No curated finding names cranio-osteoarthropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Definition from the Mondo Disease Ontology (MONDO:0015466), read 2026-09-29. CC BY 4.0.
Features
14 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 skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- Mottled pigmentationHPOHP:0001070
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- Clubbing of toesHPOHP:0100760
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Joint swellingHPOHP:0001386
- Frequent (30% to 79% of cases)
- OsteoarthritisHPOHP:0002758
- Frequent (30% to 79% of cases)
Show the remaining 2
- Deviation of fingerHPOHP:0004097
- Occasional (5% to 29% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 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.
- HPGDHGNC:5154
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cranio-osteoarthropathy
- Also called
- Currarino diseaseCurrarino idiopathic osteoarthropathyReginato-Schiapachasse syndrome