Buschke-Ollendorff syndrome
Findings
No curated finding names Buschke-Ollendorff syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.
Definition from the Mondo Disease Ontology (MONDO:0008157), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Epidermal nevusHPOHP:0010816
- 1 of 1 reported patient
- Lower limb asymmetryHPOHP:0100559
- 1 of 1 reported patient
- NevusHPOHP:0003764
- 1 of 1 reported patient
- OsteopoikilosisHPOHP:0010739
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Femoral osteopoikilosisHPOHP:6000943
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
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Buschke-Ollendorff syndrome
- Also called
- osteopoikilosis with or without melorheostosis