Ulna metaphyseal dysplasia syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

Orpha Number: 1837

Disease 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: 9/7/2017

Symptoms Symptoms

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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/7/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

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