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

Ulna metaphyseal dysplasia syndrome


Other Names:
Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna; Metaphyseal chondroplasia Rosenberg type; Rosenberg Lohr syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1837

Definition
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.
Last updated: 9/1/2017

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
Abnormality of the hip bone
Abnormality of the hips
0003272
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormality of the ulna 0002997
Aplasia/Hypoplasia of the radius 0006501
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies 0003312
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Short stature
Decreased body height
Small stature
[ more ] 		0004322
5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Microdontia
Decreased width of tooth
0000691
Nephrolithiasis
Kidney stones
0000787
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 ] 		0000925
Autosomal dominant inheritance 0000006
Coxa valga 0002673
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ] 		0003072
Wrist pain 0030836
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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