Rare Infectious Disease News

Disease Profile

Omodysplasia 2

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.

Unknown

Age of onset

-

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

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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)

OMOD2; Omodysplasia, autosomal dominant

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

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
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Short humerus
Short long bone of upper arm
Short upper arms

[ more ]

0005792
30%-79% of people have these symptoms
Bifid scrotum
Cleft of scrotum
0000048
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
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of penis
Underdeveloped penis
0008736
Long philtrum
0000343
Malar flattening
Zygomatic flattening
0000272
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
5%-29% of people have these symptoms
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Patellar dislocation
Dislocated kneecap
0002999
Short palm
0004279
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bifid nasal tip
Cleft nasal tip
0000456
Dislocated radial head
0003083
Hypoplastic distal humeri
0005025
Hypospadias
0000047
Limited elbow flexion/extension
0005060
Micropenis
Short penis
Small penis

[ more ]

0000054
Rhizomelic arm shortening
0004991

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 Omodysplasia 2. Click on the link to view a sample search on this topic.