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Disease Profile
Langer mesomelic dysplasia
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.
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Age of onset
Antenatal
ICD-10
Q87.1
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)
Dyschondrosteosis, homozygous; Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 2632
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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the carpal bones | 0001191 | |
Abnormality of the ulna | 0002997 | |
Aplasia/Hypoplasia of the fibula |
Absent/small calf bone
Absent/underdeveloped calf bone
[ more ] |
0006492 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Madelung deformity | 0003067 | |
Mesomelic/rhizomelic limb shortening | 0005026 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Broad ulna | 0003993 | |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Mesomelic short stature | 0008845 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Rudimentary fibula |
Small to absent calf bone
|
0006381 |
Short tibia |
Short shinbone
Short skankbone
[ more ] |
0005736 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Somatropin (r-DNA) for injection(Brand name: Humatrope) Manufactured by Eli Lilly and Company
FDA-approved indication: For the treatment ofshort stature associated with Turnersyndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short staturehomeobox -containinggene ) deficiency whose epiphyses are not closed.
National Library of Medicine Drug Information Portal
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
- Genetics Home Reference (GHR) contains information on Langer mesomelic dysplasia. This website is maintained by the National Library of Medicine.
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 Langer mesomelic dysplasia. Click on the link to view a sample search on this topic.