Madelung's deformity: Difference between revisions

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'''Madelung's deformity''' is a rare congenital condition that affects the bones of the wrist. It is characterized by an abnormality in the growth of the radius, one of the two long bones in the forearm, leading to a deformity of the wrist and forearm. The condition is named after [[Otto Wilhelm Madelung]], a German surgeon who first described it in 1878.
{{Short description|A congenital deformity of the wrist}}
{{Use dmy dates|date=October 2023}}


== Signs and Symptoms ==
==Madelung's deformity==
The most common symptom of Madelung's deformity is a visible deformity of the wrist, which may be present at birth or develop during adolescence. Other symptoms may include pain, limited wrist movement, and decreased grip strength. In some cases, the deformity may be bilateral, affecting both wrists.
[[File:Madelung.jpg|thumb|right|X-ray showing Madelung's deformity]]
'''Madelung's deformity''' is a rare congenital condition affecting the wrist, characterized by a malformation of the distal radius, ulna, and carpal bones. This deformity results in a distinctive appearance and functional impairment of the wrist and forearm.


== Causes ==
==Pathophysiology==
Madelung's deformity is caused by a disruption in the growth of the radius, which leads to a shortening and bowing of the bone. This in turn causes the wrist to tilt towards the thumb (radial deviation). The exact cause of this disruption is not known, but it is believed to be due to a genetic mutation. The condition is more common in females and often occurs in individuals with [[Leri-Weill dyschondrosteosis]], a genetic disorder that affects bone growth.
Madelung's deformity is caused by an abnormal growth of the distal radius, leading to a volar and ulnar tilt. The condition is often associated with a shortened radius and an elongated ulna, which can result in a prominent ulnar head. The carpal bones may also be displaced, contributing to the wrist's abnormal appearance and function.


== Diagnosis ==
==Etiology==
The diagnosis of Madelung's deformity is usually made based on physical examination and imaging studies. X-rays of the wrist can show the characteristic changes in the radius and other bones of the wrist. In some cases, genetic testing may be performed to confirm the diagnosis and identify any associated genetic disorders.
The exact cause of Madelung's deformity is not fully understood, but it is believed to be due to a genetic mutation. It is often associated with [[Leri-Weill dyschondrosteosis]], a genetic disorder caused by mutations in the SHOX gene. The condition can also occur sporadically without a family history.


== Treatment ==
==Clinical presentation==
The treatment of Madelung's deformity depends on the severity of the symptoms and the degree of deformity. Non-surgical treatments may include pain management, physical therapy, and the use of braces or splints. In more severe cases, surgery may be required to correct the deformity and improve wrist function. The type of surgery performed depends on the individual's age, the severity of the deformity, and the presence of any associated conditions.
Patients with Madelung's deformity typically present with wrist pain, limited range of motion, and a visible deformity. The wrist may appear shortened and bowed, with a prominent ulnar head. Symptoms often become more pronounced during adolescence as the bones grow.


== See Also ==
==Diagnosis==
* [[Congenital disorders]]
Diagnosis of Madelung's deformity is primarily based on clinical examination and radiographic findings. X-rays of the wrist reveal the characteristic changes in the radius, ulna, and carpal bones. MRI may be used to assess the soft tissue structures and any associated abnormalities.
* [[Bone deformities]]
 
* [[Leri-Weill dyschondrosteosis]]
==Treatment==
Treatment of Madelung's deformity depends on the severity of the condition and the symptoms experienced by the patient. Non-surgical management includes physical therapy and pain management. Surgical options may be considered for severe cases and include procedures to correct the alignment of the radius and ulna, such as osteotomy or radial dome osteotomy.


== References ==
==Prognosis==
<references />
The prognosis for individuals with Madelung's deformity varies. Some patients experience minimal symptoms and maintain good function, while others may have significant pain and functional limitations. Early diagnosis and appropriate management can improve outcomes.


[[Category:Congenital disorders]]
==Related pages==
[[Category:Bone deformities]]
* [[Leri-Weill dyschondrosteosis]]
[[Category:Rare diseases]]
* [[SHOX gene]]
* [[Congenital disorder]]


{{stub}}
[[Category:Congenital disorders of musculoskeletal system]]

Revision as of 11:26, 15 February 2025

A congenital deformity of the wrist



Madelung's deformity

X-ray showing Madelung's deformity

Madelung's deformity is a rare congenital condition affecting the wrist, characterized by a malformation of the distal radius, ulna, and carpal bones. This deformity results in a distinctive appearance and functional impairment of the wrist and forearm.

Pathophysiology

Madelung's deformity is caused by an abnormal growth of the distal radius, leading to a volar and ulnar tilt. The condition is often associated with a shortened radius and an elongated ulna, which can result in a prominent ulnar head. The carpal bones may also be displaced, contributing to the wrist's abnormal appearance and function.

Etiology

The exact cause of Madelung's deformity is not fully understood, but it is believed to be due to a genetic mutation. It is often associated with Leri-Weill dyschondrosteosis, a genetic disorder caused by mutations in the SHOX gene. The condition can also occur sporadically without a family history.

Clinical presentation

Patients with Madelung's deformity typically present with wrist pain, limited range of motion, and a visible deformity. The wrist may appear shortened and bowed, with a prominent ulnar head. Symptoms often become more pronounced during adolescence as the bones grow.

Diagnosis

Diagnosis of Madelung's deformity is primarily based on clinical examination and radiographic findings. X-rays of the wrist reveal the characteristic changes in the radius, ulna, and carpal bones. MRI may be used to assess the soft tissue structures and any associated abnormalities.

Treatment

Treatment of Madelung's deformity depends on the severity of the condition and the symptoms experienced by the patient. Non-surgical management includes physical therapy and pain management. Surgical options may be considered for severe cases and include procedures to correct the alignment of the radius and ulna, such as osteotomy or radial dome osteotomy.

Prognosis

The prognosis for individuals with Madelung's deformity varies. Some patients experience minimal symptoms and maintain good function, while others may have significant pain and functional limitations. Early diagnosis and appropriate management can improve outcomes.

Related pages