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Disease Profile

Spondyloepimetaphyseal dysplasia Strudwick 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

-

ICD-10

Q77.7

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)

Dappled metaphysis syndrome; Strudwick syndrome; SMED Strudwick type;

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: 93346

Definition
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Epidemiology
The syndrome has been described in less than 30 patients so far.

Clinical description
Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.

Etiology
This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).

Genetic counseling
It is inherited in an autosomal dominant manner.

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
Aplasia/hypoplasia involving bones of the extremities
0045060
Flared metaphysis
Flared wide portion of long bone
0003015
30%-79% of people have these symptoms
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Cervical instability
0008462
Coarse facial features
Coarse facial appearance
0000280
Flat face
Flat facial shape
0012368
Glossoptosis
Retraction of the tongue
0000162
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic pubic bone
0003173
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Short long bone
Long bone shortening
0003026
Small epiphyses
Small end part of bone
0010585
5%-29% of people have these symptoms
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Delayed ossification of carpal bones
0001216
Functional respiratory abnormality
0002795
Laryngotracheomalacia
0008755
Limited hip movement
0008800
Maternal diabetes
gestational diabetes
0009800
Platyspondyly
Flattened vertebrae
0000926
Restricted large joint movement
0005193
Spinal cord compression
Pressure on spinal cord
0002176
Percent of people who have these symptoms is not available through HPO
Anterior rib cupping
0000907
Autosomal dominant inheritance
0000006
Brachydactyly
Short fingers or toes
0001156
C1-C2 subluxation
0003320
Cleft palate
Cleft roof of mouth
0000175
Club-shaped proximal femur
Club-shaped innermost end of thighbone
0006406
Coxa vara
0002812
Delayed pubic bone ossification
0008788
Genu valgum
Knock knees
0002857
Hyperlordosis
Prominent swayback
0003307
Hypoplasia of the odontoid process
0003311
Inguinal hernia
0000023
Metaphyseal dappling
0011860
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Narrow greater sciatic notch
0003375
Pectus carinatum
Pigeon chest
0000768
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Scoliosis
0002650
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Spondyloepimetaphyseal dysplasia
0002651

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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