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Osteopoikilosis

disorder
SNOMED 9147009CUI C0029455

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Osteopoikiloses" from the MEDLINE/PubMed database.

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Buschke-Ollendorff syndrome: a novel case series and systematic review.
[object Object], [object Object], [object Object] et al. · Br J Dermatol · 2016
PMID: 26708699Meta-Analysis
Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.
[object Object], [object Object], [object Object] et al. · JBJS Case Connect · 2026
PMID: 41505508Case Report
Cinematic rendering of osteopoikilosis.
[object Object], [object Object], [object Object] · Rheumatology (Oxford) · 2024
PMID: 38648745Case ReportFull text (PMC)
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
[object Object], [object Object] · Calcif Tissue Int · 2019
PMID: 30989250Review
Human Genetics of Sclerosing Bone Disorders.
[object Object], [object Object], [object Object] et al. · Curr Osteoporos Rep · 2018
PMID: 29656376Review
LEMD3: the gene responsible for bone density disorders (osteopoikilosis).
[object Object], [object Object], [object Object] · Isr Med Assoc J · 2005
PMID: 15847215Review
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis.
[object Object] · Am J Med Genet A · 2004
PMID: 14994228Review
Molecular and radiological diagnosis of sclerosing bone dysplasias.
[object Object], [object Object], [object Object] et al. · Eur J Radiol · 2001
PMID: 11731208Review
[Osteopoikilosis].
[object Object] · Ryoikibetsu Shokogun Shirizu · 2001
PMID: 11528822Review
Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.
[object Object], [object Object], [object Object] et al. · Front Endocrinol (Lausanne) · 2024
PMID: 38633760OtherFull text (PMC)
Search all PubMed articles for Osteopoikilosis

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Epidermal nevus
Always present (100%)HP:0010816
Left and right leg differ in length or width
Always present (100%)HP:0100559
Naevus
Always present (100%)HP:0003764
Osteopoikilosis
Always present (100%)HP:0010739
Connective tissue nevi
HP:0100898
Femoral osteopoikilosis
HP:6000943
Flexion contractures
HP:0001371
Husky voice
HP:0001609
Melorheostosis
HP:6000817
Stiff joint
HP:0001387

Related Conditions

Dermatofibrosis lenticularis disseminata(child)
12q14 microdeletion syndrome(child)
Dacryocystitis and osteopoikilosis syndrome(child)
Mixed sclerosing bone dystrophy(child)
Isolated osteopoikilosis(child)
Dysplasia with increased bone density(parent)
Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT
9147009
UMLS CUI
C0029455
Fully Specified Name
Osteopoikilosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
11
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.