melorheostosis with osteopoikilosis
Findings
No curated finding names melorheostosis with osteopoikilosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Definition from the Mondo Disease Ontology (MONDO:0015995), read 2026-09-29. CC BY 4.0.
Features
7 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)
- Complete duplication of the distal phalanges of the handHPOHP:0010001
- Very frequent (80% to 99% of cases)
- OsteopoikilosisHPOHP:0010739
- Very frequent (80% to 99% of cases)
- Abnormality of the skinHPOHP:0000951
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- Multiple lipomasHPOHP:0001012
- Occasional (5% to 29% of cases)
- Subcutaneous noduleHPOHP:0001482
- 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.
- LEMD3HGNC:28887
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: melorheostosis with osteopoikilosis
- Also called
- mixed sclerosing bone dystrophyMSBD syndrome