Spondyloepimetaphyseal dysplasia Missouri type

Title

Other Names:

SEMD Missouri type; Missouri type of spondyloepimetaphyseal dysplasia; SEMD, Missouri type; SEMD Missouri type; Missouri type of spondyloepimetaphyseal dysplasia; SEMD, Missouri type; Spondyloepimetaphyseal dysplasia type 2; Spondyloepimetaphyseal dysplasia, Missouri type See More

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: 93356

Definition

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Epidemiology

The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.

Clinical description

Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted.

Etiology

This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.

Visit the Orphanet disease page for more resources.

Last updated: 11/15/2009

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 epiphysis morphology	Abnormal shape of end part of bone	0005930
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Femoral bowing	Bowed thighbone	0002980
Pear-shaped vertebrae		0004566
Spondyloepimetaphyseal dysplasia		0002651
Tibial bowing	Bowed shankbone Bowed shinbone [ more ]	0002982
30%-79% of people have these symptoms
Coxa vara		0002812
Genu varum	Outward bow-leggedness Outward bowing at knees [ more ]	0002970
Osteoarthritis	Degenerative joint disease	0002758
Short lower limbs	Short legs	0006385
Short stature	Decreased body height Small stature [ more ]	0004322
5%-29% of people have these symptoms
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Flared iliac wings		0002869
Flared metaphysis	Flared wide portion of long bone	0003015
Flared, irregular rib ends		0006603
Flattened epiphysis	Flat end part of bone	0003071
Irregular sclerotic endplates		0008476
Limited elbow extension	Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ]	0001377
Metaphyseal cupping		0003021
Platyspondyly	Flattened vertebrae	0000926
Radial bowing	Bowing of outer large bone of the forearm	0002986
Rhizomelia	Disproportionately short upper portion of limb	0008905
Small epiphyses	Small end part of bone	0010585
Ulnar bowing	Curving of inner forearm bone	0003031
Waddling gait	'Waddling' gait Waddling walk [ more ]	0002515

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

Last updated: 8/1/2019

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondyloepimetaphyseal dysplasia Missouri type. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Spondyloepimetaphyseal dysplasia Missouri type:
International Skeletal Dysplasia Registry (ISDR)

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 Spondyloepimetaphyseal dysplasia Missouri type. Click on the link to view a sample search on this topic.

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