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Disease Profile

Worth type autosomal dominant osteosclerosis

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

Adolescent

ICD-10

Q78.2

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)

Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Osteosclerosis, autosomal dominant, Worth type;

Categories

Congenital and Genetic Diseases; Connective tissue diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 2790

Definition
Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

Epidemiology
The syndrome has been described in less than 10 families.

Clinical description
Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased gonial angle.

Etiology
The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation.

Genetic counseling
Transmission is autosomal dominant.

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
Abnormal cortical bone morphology
0003103
Abnormality of the ribs
Rib abnormalities
0000772
Clavicular sclerosis
Increased bone density in collarbone
0100923
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Diaphyseal thickening
Thickening of shaft or central part of long bones
0005019
Generalized osteosclerosis
0005789
Torus palatinus
0100789
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Sclerotic vertebral body
0100861
5%-29% of people have these symptoms
Facial palsy
Bell's palsy
0010628
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment
0000407
Percent of people who have these symptoms is not available through HPO
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Autosomal dominant inheritance
0000006
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Flat forehead
Flattened forehead
0004425
Growth abnormality
Abnormal growth
Growth issue

[ more ]

0001507
Hyperostosis
Bone overgrowth
0100774
Metacarpal diaphyseal endosteal sclerosis
0006174
Metatarsal diaphyseal endosteal sclerosis
0008114
Thickened cortex of long bones
0000935

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 Worth type autosomal dominant osteosclerosis. Click on the link to view a sample search on this topic.