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Worth type autosomal dominant osteosclerosis


Other Names:
Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Osteosclerosis, autosomal dominant, Worth type; Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Osteosclerosis, autosomal dominant, Worth type; Worth syndrome; Endosteal hyperostosis, Worth type; Autosomal dominant osteosclerosis, Worth type; Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 11/1/2009

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.

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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
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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