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

• MD (Madelung Deformity)

What is Madelung Deformity? (Definition/Background Information)

• Madelung Deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump
• Symptoms typically develop in mid- to late-childhood or early adolescence (around 6 to 13 years of age) and usually affect both wrists. It is more commonly observed in females
• Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist. In addition to the abnormal growth, there is also an abnormal palmar (Vickers’ ligament) that is thought to contribute to the deformity
• Madelung Deformity seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint)
• Madelung Deformity can also occur as part of other conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by mutations or losses of genetic material involving the SHOX gene
• Some cases of isolated MD may be caused by alterations in the SHOX gene
• Treatment may include medication, wrist splints and devices that reduce the pain, and surgical correction of the deformity

(Source: Madelung Deformity; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Madelung Deformity? (Age and Sex Distribution)

• Madelung Deformity may be an inherited or acquired disorder. Its exact prevalence is not known
• The symptoms typically begin in childhood, between the ages of 6 and 13 years
• Although both genders may be affected, the condition is more prevalent in females
• Individuals of all ethnicities and populations may be affected worldwide

What are the Risk Factors for Madelung Deformity? (Predisposing Factors)

• A positive family history may be an important risk factor, since Madelung Deformity can be inherited
• Additionally, overuse of the wrist joint and trauma may also be risk factors for this disorder

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 Madelung Deformity? (Etiology)

Madelung Deformity may be caused:

• By mutation(s) in or deletion of SHOX gene, which may be inherited in an autosomal dominant manner
• By abnormal development due to conditions such as multiple exostoses syndrome or nail-patella syndrome (dysplastic causes)
• As a manifestation of a genetic syndrome (Example: dyschondrosteosis-nephritis)
• By excessive use of the immature joint of the upper extremities
• By trauma, due to injury to the radial epiphysis
• Infections in the region

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Madelung Deformity?

The signs and symptoms of Madelung Deformity may include:

• A decreased range of motion in the wrist
• Pain 
• A discernable difference in the appearance of the wrist

How is Madelung Deformity Diagnosed?

Madelung Deformity 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, such as X-ray of the affected lower arm or wrist

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 Madelung Deformity?

The complications of Madelung Deformity may include:

• Severe pain 
• Arthritis of the wrist joint
• Severely impaired wrist function, affecting writing, or picking and holding objects
• Embarrassment (due to abnormal appearance of wrist)
• Depression

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

How is Madelung Deformity Treated?

The treatment for Madelung Deformity may include the following:

• Use of wrist splints, supports and ergonomic devices to ease pain and discomfort
• Surgical correction (may include physiolysis of the ulnar aspect of the distal radius and excision of the Vickers ligament)

How can Madelung Deformity be Prevented?

Madelung Deformity may not be preventable, if it is, or caused by, 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
• Avoiding repetitive use of the wrist joint at a young age may help prevent the condition from occurring
• 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 Madelung Deformity? (Outcomes/Resolutions)

• The prognosis of Madelung Deformity 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
• If arthritis of the wrist develops, severe pain may ensue and worsen with age
• The prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Madelung Deformity:

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

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