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Disease Profile
Opsismodysplasia
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
Neonatal
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
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Opsismodysplasia is a rare skeletal dysplasia characterized by
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 metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
Short fingers or toes
|
0001156 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Frontal bossing | 0002007 | |
Hypoplastic ischia | 0003175 | |
Hypoplastic pubic bone | 0003173 | |
Hypoplastic vertebral bodies |
Underdeveloped back bones
|
0008479 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Squared iliac bones | 0003177 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
30%-79% of people have these symptoms | ||
Flat occiput | 0005469 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
5%-29% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypophosphatemia |
Low blood phosphate level
|
0002148 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Pectus excavatum |
Funnel chest
|
0000767 |
Renal phosphate wasting | 0000117 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior rib cupping | 0000907 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000007 | ||
Bell-shaped thorax | 0001591 | |
Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Flat acetabular roof | 0003180 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Metaphyseal cupping | 0003021 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Posterior rib cupping | 0000922 | |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
0002650 | ||
Severe platyspondyly | 0004565 | |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short long bone |
Long bone shortening
|
0003026 |
Short neck |
Decreased length of neck
|
0000470 |
Short palm | 0004279 |
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 Opsismodysplasia. 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 Opsismodysplasia. Click on the link to view a sample search on this topic.
References
- INPPL1. Genetics Home Reference (GHR). March 10, 2012; https://www.ghr.nlm.nih.gov/gene/INPPL1. Accessed 3/18/2014.
- Opsismodysplasia; OPMSD. Online Mendelian Inheritance in Man (OMIM). March 7, 2013; https://omim.org/entry/258480. Accessed 3/18/2014.
- Le Merrer M. Opsismodysplasia. Orphanet. September 2009; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=553. Accessed 3/18/2014.