Worth type autosomal dominant osteosclerosis

Title

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

Categories:

Congenital and Genetic Diseases; Connective tissue diseases; Musculoskeletal Diseases

Summary Summary

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

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

Symptoms 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.

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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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

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Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

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