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Disease Profile
Spondylometaphyseal dysplasia type A4
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.
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Spondylometaphyseal dysplasia A4 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.
Orpha Number: 168555
Definition
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature , severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
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 | ||
| Coxa vara | 0002812 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Spondylometaphyseal dysplasia | 0002657 | |
| 30%-79% of people have these symptoms | ||
| Short palm | 0004279 | |
| 5%-29% of people have these symptoms | ||
| Flared, irregular rib ends | 0006603 | |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
|
Short fingers or toes
|
0001156 | |
| Broad ischia | 0100865 | |
| Costochondral joint sclerosis | 0006623 | |
| Coxa valga | 0002673 | |
| Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
| Enlargement of the costochondral junction | 0000920 | |
| Flat acetabular roof | 0003180 | |
| Hypoplasia of the capital femoral epiphysis |
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ] |
0003090 |
| Irregular capital femoral epiphysis |
Irregular end part of innermost thighbone
|
0005041 |
| Irregular patellae | 0006369 | |
| Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
| Metaphyseal sclerosis |
Increased bone density in wide portion of long bone
|
0004979 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Narrow greater sciatic notch | 0003375 | |
| Osteoporotic metatarsal | 0004699 | |
| Osteoporotic tarsals | 0008076 | |
| Ovoid vertebral bodies | 0003300 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Sclerotic humeral metaphysis |
Hardening of wide portion of long bone of upper arm
Stiffening of wide portion of long bone of upper arm
[ more ] |
0003918 |
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 type A4. Click on the link to view a sample search on this topic.