Langer mesomelic dysplasia: Difference between revisions
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{{Infobox medical condition | |||
| name = Langer mesomelic dysplasia | |||
| synonyms = LMD | |||
| field = [[Medical genetics]] | |||
| symptoms = Short stature, [[mesomelia]], [[micromelia]], [[hypoplasia]] of the [[ulna]] and [[fibula]], [[hypoplastic]] or absent [[patella]] | |||
| complications = [[Skeletal abnormalities]], [[joint pain]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[SHOX]] gene | |||
| risks = [[Family history]] of the condition | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Léri-Weill dyschondrosteosis]], [[Turner syndrome]] | |||
| treatment = [[Supportive care]], [[physical therapy]], [[orthopedic surgery]] | |||
| prognosis = [[Variable]], depends on severity of symptoms | |||
| frequency = Rare | |||
}} | |||
'''Langer mesomelic dysplasia''' ('''LMD''') is a rare [[congenital disorder]] characterized by severe shortening or malformation of the long bones in the arms and legs. It is a type of [[skeletal dysplasia]], a group of disorders that affect the growth and development of the bones. | '''Langer mesomelic dysplasia''' ('''LMD''') is a rare [[congenital disorder]] characterized by severe shortening or malformation of the long bones in the arms and legs. It is a type of [[skeletal dysplasia]], a group of disorders that affect the growth and development of the bones. | ||
==Etiology== | ==Etiology== | ||
LMD is caused by mutations in the [[SHOX gene]], which is involved in the growth and development of the bones. These mutations result in a loss of function of the SHOX gene, leading to the characteristic features of LMD. | LMD is caused by mutations in the [[SHOX gene]], which is involved in the growth and development of the bones. These mutations result in a loss of function of the SHOX gene, leading to the characteristic features of LMD. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with LMD typically have severe shortening of the long bones in the arms and legs, particularly the [[ulna]] and [[fibula]]. Other features may include short stature, limited range of motion in the elbows, and abnormalities of the hands and feet. | Individuals with LMD typically have severe shortening of the long bones in the arms and legs, particularly the [[ulna]] and [[fibula]]. Other features may include short stature, limited range of motion in the elbows, and abnormalities of the hands and feet. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of LMD is typically based on the clinical features and confirmed by [[genetic testing]] to identify mutations in the SHOX gene. | Diagnosis of LMD is typically based on the clinical features and confirmed by [[genetic testing]] to identify mutations in the SHOX gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for LMD. Treatment is focused on managing the symptoms and improving quality of life. This may include [[physical therapy]], [[occupational therapy]], and surgical interventions to address bone abnormalities. | There is currently no cure for LMD. Treatment is focused on managing the symptoms and improving quality of life. This may include [[physical therapy]], [[occupational therapy]], and surgical interventions to address bone abnormalities. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with LMD varies depending on the severity of the symptoms. With appropriate management, many individuals with LMD can lead productive lives. | The prognosis for individuals with LMD varies depending on the severity of the symptoms. With appropriate management, many individuals with LMD can lead productive lives. | ||
==See Also== | ==See Also== | ||
* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
* [[SHOX gene]] | * [[SHOX gene]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Skeletal disorders]] | [[Category:Skeletal disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 04:43, 4 April 2025
| Langer mesomelic dysplasia | |
|---|---|
| Synonyms | LMD |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, mesomelia, micromelia, hypoplasia of the ulna and fibula, hypoplastic or absent patella |
| Complications | Skeletal abnormalities, joint pain |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the SHOX gene |
| Risks | Family history of the condition |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Léri-Weill dyschondrosteosis, Turner syndrome |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, orthopedic surgery |
| Medication | N/A |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by severe shortening or malformation of the long bones in the arms and legs. It is a type of skeletal dysplasia, a group of disorders that affect the growth and development of the bones.
Etiology[edit]
LMD is caused by mutations in the SHOX gene, which is involved in the growth and development of the bones. These mutations result in a loss of function of the SHOX gene, leading to the characteristic features of LMD.
Clinical Features[edit]
Individuals with LMD typically have severe shortening of the long bones in the arms and legs, particularly the ulna and fibula. Other features may include short stature, limited range of motion in the elbows, and abnormalities of the hands and feet.
Diagnosis[edit]
Diagnosis of LMD is typically based on the clinical features and confirmed by genetic testing to identify mutations in the SHOX gene.
Treatment[edit]
There is currently no cure for LMD. Treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, and surgical interventions to address bone abnormalities.
Prognosis[edit]
The prognosis for individuals with LMD varies depending on the severity of the symptoms. With appropriate management, many individuals with LMD can lead productive lives.
