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

Spondylometaphyseal dysplasia corner fracture type


Other Names:
Spondylometaphyseal dysplasia Sutcliffe type; Sutcliffe type of spondylometaphyseal dysplasia; Sutcliffe SMD
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93315

Definition
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Epidemiology
Less than 30 patients have been reported in the literature.

Clinical description
Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.

Etiology
Currently, there are no human genes associated with the disease.

Genetic counseling
Autosomal dominant inheritance has been suggested.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2009

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 wrist
Abnormalities of the wrists
0003019
Coxa vara 0002812
Hypoplasia of the odontoid process 0003311
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Micromelia
Smaller or shorter than typical limbs
0002983
Mild short stature 0003502
Ovoid vertebral bodies 0003300
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Spondylometaphyseal dysplasia 0002657
30%-79% of people have these symptoms
Hyperlordosis
Prominent swayback
0003307
5%-29% of people have these symptoms
Genu valgum
Knock knees
0002857
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Scoliosis 0002650
Tetralogy of Fallot 0001636
1%-4% of people have these symptoms
Genu varum
Outward bow-leggedness
Outward bowing at knees
[ more ] 		0002970
Pectus carinatum
Pigeon chest
0000768
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Hyperconvex vertebral body endplates 0004603
Short femoral neck
Short neck of thighbone
0100864
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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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

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 Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • 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 Spondylometaphyseal dysplasia corner fracture 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 Spondylometaphyseal dysplasia corner fracture type:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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 Spondylometaphyseal dysplasia corner fracture type. Click on the link to view a sample search on this topic.

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