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Disease Profile

Ulna metaphyseal dysplasia syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna; Metaphyseal chondroplasia Rosenberg type; Rosenberg Lohr syndrome


Congenital and Genetic Diseases; Musculoskeletal Diseases


The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1837

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.

Visit the Orphanet disease page for more resources.


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

30%-79% of people have these symptoms
Abnormal form of the vertebral bodies
Abnormality of fibula morphology
Abnormality of the calf bone
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
Short stature
Decreased body height
Small stature

[ more ]

5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

Decreased width of tooth
Kidney stones
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine

[ more ]

Autosomal dominant inheritance
Coxa valga
High blood calcium levels
Increased calcium in blood

[ more ]

Wrist pain

Learn more

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Ulna metaphyseal dysplasia syndrome. Click on the link to view a sample search on this topic.