Rare Nephrology News
Disease Profile
Mesomelic dysplasia Savarirayan 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.
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.
Unknown
Age of onset
Infancy
ICD-10
Q78.8
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)
Mesomelic dysplasia with absent fibulas and triangular tibias; Triangular tibia and fibular aplasia
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: 85170
Definition
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
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 | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
| Broad tibial metaphyses |
Broad wide portion of shankbone
Broad wide portion of shinbone
[ more ] |
0006413 |
| Fibular aplasia |
Absent calf bone
|
0002990 |
| Flared radial metaphysis | 0004018 | |
| Glenoid fossa hypoplasia | 0006633 | |
| High iliac wings | 0008808 | |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
| Hypoplasia of proximal radius | 0006434 | |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Metatarsus valgus | 0010508 | |
| Narrow iliac wings | 0002868 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Skeletal dysplasia | 0002652 | |
| 30%-79% of people have these symptoms | ||
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal foot morphology |
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ] |
0001760 |
| Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
| 0000006 | ||
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Dislocated radial head | 0003083 | |
| Global |
0001263 | |
| Short tibia |
Short shinbone
Short skankbone
[ more ] |
0005736 |
| Talipes equinovalgus | 0001772 | |
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 Mesomelic dysplasia Savarirayan type. Click on the link to view a sample search on this topic.