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Disease Profile

Omodysplasia 1

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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.

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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)

OMOD1; Omodysplasia generalized form; Omodysplasia autosomal recessive;

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
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormality of the radius
0002818
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
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
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Frontal bossing
0002007
Hypoplastic distal humeri
0005025
Long philtrum
0000343
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Rhizomelia
Disproportionately short upper portion of limb
0008905
30%-79% of people have these symptoms
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Mesomelia
Disproportionately short middle portion of limb
0003027
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micromelia
Smaller or shorter than typical limbs
0002983
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Craniosynostosis
0001363
Hernia
0100790
Increased nuchal translucency
0010880
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Pterygium
0001059
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Percent of people who have these symptoms is not available through HPO
Anterolateral radial head dislocation
0005050
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Axillary pterygium
0001060
Blepharophimosis
Narrow opening between the eyelids
0000581
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Fibular hypoplasia
Short calf bone
0003038
Flat face
Flat facial shape
0012368
Hemangioma
Strawberry mark
0001028
Increased fibular diameter
Wide calf bone
0012107
Limited elbow flexion/extension
0005060
Limited hip movement
0008800
Limited knee flexion/extension
0005085
Malar flattening
Zygomatic flattening
0000272
Narrow palpebral fissure
Small opening between the eyelids
0045025
Popliteal pterygium
0009756
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Short humerus
Short long bone of upper arm
Short upper arms

[ more ]

0005792
Short neck
Decreased length of neck
0000470
Short tibia
Short shinbone
Short skankbone

[ more ]

0005736
Umbilical hernia
0001537
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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