Larsen syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
No edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
[[File:Hands_of_a_person_with_Larsen_syndrome.jpg|Hands of a person with Larsen syndrome| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Larsen syndrome | |||
| image = [[File:Hands_of_a_person_with_Larsen_syndrome.jpg|left|thumb|Hands of a person with Larsen syndrome]] | |||
| caption = Hands of a person with Larsen syndrome | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Joint dislocations]], [[flattened facial features]], [[spinal abnormalities]] | |||
| complications = [[Respiratory problems]], [[spinal cord compression]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Ehlers-Danlos syndrome]], [[Marfan syndrome]] | |||
| prevention = | |||
| treatment = [[Orthopedic surgery]], [[physical therapy]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Larsen syndrome''' is a rare genetic disorder characterized by multiple joint dislocations, distinctive facial features, and other skeletal and developmental abnormalities. It was first described by Dr. Loren J. Larsen in 1950. | |||
== Presentation == | == Presentation == | ||
Individuals with Larsen syndrome typically present with congenital [[joint dislocations]], particularly affecting the [[knees]], [[hips]], and [[elbows]]. Other common features include: | Individuals with Larsen syndrome typically present with congenital [[joint dislocations]], particularly affecting the [[knees]], [[hips]], and [[elbows]]. Other common features include: | ||
* Flattened facial appearance | * Flattened facial appearance | ||
* Prominent forehead | * Prominent forehead | ||
| Line 12: | Line 34: | ||
* Spinal abnormalities, such as [[scoliosis]] or [[kyphosis]] | * Spinal abnormalities, such as [[scoliosis]] or [[kyphosis]] | ||
* Clubfoot ([[talipes equinovarus]]) | * Clubfoot ([[talipes equinovarus]]) | ||
== Genetics == | == Genetics == | ||
Larsen syndrome is most commonly inherited in an [[autosomal dominant]] manner, although autosomal recessive forms have also been reported. Mutations in the [[FLNB]] gene, which encodes the protein filamin B, are responsible for the majority of cases. Filamin B plays a crucial role in the development and maintenance of the skeletal system. | Larsen syndrome is most commonly inherited in an [[autosomal dominant]] manner, although autosomal recessive forms have also been reported. Mutations in the [[FLNB]] gene, which encodes the protein filamin B, are responsible for the majority of cases. Filamin B plays a crucial role in the development and maintenance of the skeletal system. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Larsen syndrome is based on clinical evaluation, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the FLNB gene. | Diagnosis of Larsen syndrome is based on clinical evaluation, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the FLNB gene. | ||
== Management == | == Management == | ||
Management of Larsen syndrome is multidisciplinary and may involve: | Management of Larsen syndrome is multidisciplinary and may involve: | ||
* Orthopedic interventions to address joint dislocations and spinal deformities | * Orthopedic interventions to address joint dislocations and spinal deformities | ||
* Physical therapy to improve mobility and muscle strength | * Physical therapy to improve mobility and muscle strength | ||
* Surgical correction of cleft palate and other craniofacial abnormalities | * Surgical correction of cleft palate and other craniofacial abnormalities | ||
* Regular monitoring for potential complications, such as respiratory issues due to spinal deformities | * Regular monitoring for potential complications, such as respiratory issues due to spinal deformities | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Larsen syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and interventions, many individuals can lead relatively normal lives. | The prognosis for individuals with Larsen syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and interventions, many individuals can lead relatively normal lives. | ||
== See also == | |||
== | |||
* [[Joint dislocation]] | * [[Joint dislocation]] | ||
* [[Scoliosis]] | * [[Scoliosis]] | ||
| Line 38: | Line 54: | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
* [[FLNB]] | * [[FLNB]] | ||
<br> | <br> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Orthopedic diseases]] | [[Category:Orthopedic diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 00:40, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Larsen syndrome | |
|---|---|
 | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Joint dislocations, flattened facial features, spinal abnormalities |
| Complications | Respiratory problems, spinal cord compression |
| Onset | Congenital |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Ehlers-Danlos syndrome, Marfan syndrome |
| Prevention | |
| Treatment | Orthopedic surgery, physical therapy |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Larsen syndrome is a rare genetic disorder characterized by multiple joint dislocations, distinctive facial features, and other skeletal and developmental abnormalities. It was first described by Dr. Loren J. Larsen in 1950.
Presentation[edit]
Individuals with Larsen syndrome typically present with congenital joint dislocations, particularly affecting the knees, hips, and elbows. Other common features include:
- Flattened facial appearance
- Prominent forehead
- Depressed nasal bridge
- Wide-spaced eyes (hypertelorism)
- Cleft palate
- Short stature
- Spinal abnormalities, such as scoliosis or kyphosis
- Clubfoot (talipes equinovarus)
Genetics[edit]
Larsen syndrome is most commonly inherited in an autosomal dominant manner, although autosomal recessive forms have also been reported. Mutations in the FLNB gene, which encodes the protein filamin B, are responsible for the majority of cases. Filamin B plays a crucial role in the development and maintenance of the skeletal system.
Diagnosis[edit]
Diagnosis of Larsen syndrome is based on clinical evaluation, family history, and radiographic findings. Genetic testing can confirm the diagnosis by identifying mutations in the FLNB gene.
Management[edit]
Management of Larsen syndrome is multidisciplinary and may involve:
- Orthopedic interventions to address joint dislocations and spinal deformities
- Physical therapy to improve mobility and muscle strength
- Surgical correction of cleft palate and other craniofacial abnormalities
- Regular monitoring for potential complications, such as respiratory issues due to spinal deformities
Prognosis[edit]
The prognosis for individuals with Larsen syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and interventions, many individuals can lead relatively normal lives.
See also[edit]
This article is a genetic disorder stub. You can help WikiMD by expanding it!
