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Disease Profile

Spondylometaphyseal dysplasia corner fracture type

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q77.8

Inheritance

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

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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

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X-linked
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.

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

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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.

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Not applicable

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Other names (AKA)

Spondylometaphyseal dysplasia Sutcliffe type; Sutcliffe type of spondylometaphyseal dysplasia; Sutcliffe SMD

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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.

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.

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

Organizations

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

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