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 Algerian type


Other Names:
Spondylometaphyseal dysplasia Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Schmid metaphyseal dysostosis; Spondylometaphyseal dysplasia Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Schmid metaphyseal dysostosis; Japanese type spondylometaphyseal dysplasia See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93316

Definition
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

Epidemiology
This condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder.

Etiology
Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2009

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
Genu valgum
Knock knees
0002857
Kyphoscoliosis 0002751
Metaphyseal dysplasia 0100255
Micromelia
Smaller or shorter than typical limbs
0002983
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Short long bone
Long bone shortening
0003026
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Spondylometaphyseal dysplasia 0002657
30%-79% of people have these symptoms
Hypoplastic pelvis 0008839
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Platyspondyly
Flattened vertebrae
0000926
Percent of people who have these symptoms is not available through HPO
Anterior rib cupping 0000907
Autosomal dominant inheritance 0000006
Bowed humerus
Bowed long bone in upper arm
0003865
Carpal bone hypoplasia
Small carpal bones
Small carpals
[ more ] 		0001498
Coxa vara 0002812
Flared femoral metaphysis 0002834
Hypoplasia of proximal radius 0006434
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Short greater sciatic notch 0003185
Short tubular bones of the hand 0001248
Tibial metaphyseal irregularity 0030292
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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 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 Algerian 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 Algerian type:
    International Skeletal Dysplasia Registry (ISDR)
     

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.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Algerian type. Click on the link to view a sample search on this topic.

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