Autosomal Dominant Osteosclerosis, Worth type

Autosomal Dominant Osteosclerosis, Worth type

Article
Ear, Nose, & Throat (ENT)
Bone, Muscle, & Joint
+5
Contributed byMaulik P. Purohit MD MPHNov 15, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Autosomal Dominant Endosteal Hyperostosis
  • Endosteal Hyperostosis, Worth type
  • Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus

What is it? (Definition/Background Information)

  • Autosomal Dominant Osteosclerosis, Worth type is a sclerosing 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
  • Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, torus palatinus and increased gonial angle
  • Transmission is autosomal dominant

(Source: Autosomal Dominant Osteosclerosis, Worth type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Autosomal Dominant Osteosclerosis, Worth type? (Age and Sex Distribution)

  • Autosomal Dominant Osteosclerosis, Worth type is a rare congenital disorder. Study reports indicate that only about 10 families have reported this disorder
  • The presentation of symptoms is seen in childhood
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Autosomal Dominant Osteosclerosis, Worth type? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Autosomal Dominant Osteosclerosis, Worth type can be inherited
  • Currently, no other risk factors have been clearly identified for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Autosomal Dominant Osteosclerosis, Worth type? (Etiology)

  • Autosomal Dominant Osteosclerosis, Worth type is due to a mutation in the LRP5 gene that leads to increased bone formation

(Source: Autosomal Dominant Osteosclerosis, Worth type; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Signs and Symptoms of Autosomal Dominant Osteosclerosis, Worth type?

The signs and symptoms of Autosomal Dominant Osteosclerosis, Worth type may include:

  • Abnormality of pelvic girdle bone morphology
  • Dental malocclusion
  • Flat forehead
  • Growth abnormality
  • Metacarpal diaphyseal endosteal sclerosis
  • Metatarsal diaphyseal endosteal sclerosis
  • Thickened cortex of long bones

Very frequently present symptoms in 80-99% of the cases:

  • Abnormal cortical bone morphology
  • Abnormality of the ribs
  • Clavicular sclerosis
  • Craniofacial hyperostosis
  • Diaphyseal thickening
  • Generalized osteosclerosis
  • Torus palatinus

Frequently present symptoms in 30-79% of the cases:

  • Abnormal form of the vertebral bodies
  • Vertebral body sclerosis

Occasionally present symptoms in 5-29% of the cases:

  • Facial palsy
  • Nystagmus
  • Sensorineural hearing impairment

(Source: Autosomal Dominant Osteosclerosis, Worth type; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Autosomal Dominant Osteosclerosis, Worth type Diagnosed?

Autosomal Dominant Osteosclerosis, Worth type is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Autosomal Dominant Osteosclerosis, Worth type?

The complications of Autosomal Dominant Osteosclerosis, Worth type may include:

  • Hearing loss
  • Skeletal abnormalities
  • Vision loss

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autosomal Dominant Osteosclerosis, Worth type Treated?

There is no cure for Autosomal Dominant Osteosclerosis, Worth type, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Autosomal Dominant Osteosclerosis, Worth type be Prevented?

Currently, Autosomal Dominant Osteosclerosis, Worth type may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Autosomal Dominant Osteosclerosis, Worth type? (Outcomes/Resolutions)

  • The prognosis of Autosomal Dominant Osteosclerosis, Worth type is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autosomal Dominant Osteosclerosis, Worth type:

Autosomal Dominant Osteosclerosis, Worth type is also known by the following names:

  • Autosomal Dominant Osteosclerosis
  • Worth Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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