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Disease Profile

Spondylometaphyseal dysplasia Algerian 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

Q77.8

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 Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Schmid metaphyseal dysostosis;

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: 93316

Definition
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kyphoscoliosis, 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.

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
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

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.

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.