National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Melorheostosis with osteopoikilosis


Other Names:
MSBD syndrome; Mixed sclerosing bone dystrophy
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1879

Definition
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.

Epidemiology
Less than 5 families have been reported in the literature to date.

Clinical description
As osteopoikilosis is a benign, usually asymptomatic condition, the clinical signs are primarily those of melorheostosis that can manifest with joint contractures, pain, stiffness, limited joint functions, limb-length discrepancy and deformity.

Etiology
The combination of melorheostosis with osteopoikilosis may be an unusual complication of familial osteopoikilosis. Osteopoikilosis is caused by a germline mutation in the LEMD3 gene (12q14). A germline mutation in the LEMD3 gene may predispose individuals with osteopoikilosis to develop melorheostosis. However, the exact pathogenesis is currently unknown.

Genetic counseling
Osteopoikilosis is inherited autosomal dominantly. There are no reports of parent to child transmission of melorheostosis. Genetic counseling is possible.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cortical bone morphology 0003103
Complete duplication of the distal phalanges of the hand
Complete duplication of the outermost bones of the hand
0010001
Osteopoikilosis 0010739
5%-29% of people have these symptoms
Hypertension 0000822
Multiple lipomas
Multiple fatty lumps
0001012
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Melorheostosis with osteopoikilosis. Click on the link to view a sample search on this topic.

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