Larsen syndrome

Common Name(s)

Larsen syndrome

Larsen syndrome is a genetic disorder that causes abnormalities in bone development. Features can vary, even within the same family, and are typically seen at birth (congenital). These features may include inward and upward turned feet (club feet), dislocation of hips, knees, and elbows, extra small bones in wrists and ankles, and blunt square shaped fingertips. Affected individuals are typically shorter than their relatives (short stature), have a large range of joint movement (hypermobility) and can have an abnormal curvature of the spine (scoliosis) that may cause weakness in the limbs. Larsen syndrome may cause unique facial features, including a prominent forehead, a flattened nose, and wide set eyes. Additional features may include an opening in the roof of the mouth (cleft palate), hearing loss, or breathing problems.

Larsen syndrome is caused by a change (mutation) in the FLNB gene, which acts as an instruction for the body to make a protein that is important for bone development in the fetus. Most cases of Larsen syndrome are inherited in an autosomal dominant way, which means a mutation in one of the two copies of the FLNB gene a person has is enough to cause the condition. However, some cases of Larsen syndrome are inherited in an autosomal recessive way, which means a mutation in both copies of the FLNB gene is needed to cause the condition.

The diagnosis of Larsen syndrome is considered in a baby who has congenital bone abnormalities, which are usually noticed with a physical exam. The doctor may order imaging tests, such as a skeletal x-ray, to look for clues of the diagnosis. Genetic testing is used to confirm the diagnosis. There is no cure for Larsen syndrome. However, affected individuals can usually live into adulthood. Depending on the features of the condition, treatment may include therapies or surgery. If your child has been diagnosed with Larsen syndrome, talk with their doctor about all treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Larsen syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Larsen syndrome" returned 18 free, full-text research articles on human participants. First 3 results:

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
 

Author(s): Katta Mohan Girisha, Abdul Mueed Bidchol, Luitgard Graul-Neumann, Ashish Gupta, Ute Hehr, Davor Lessel, Sean Nader, Hitesh Shah, Julia Wickert, Kerstin Kutsche

Journal:

 

Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To further characterize the phenotype and the mutation spectrum of this condition, ...

Last Updated: 6 Apr 2016

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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
 

Author(s): François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, Jean-Marc Laville, Arnold Munnich, Valérie Cormier-Daire

Journal: Eur. J. Hum. Genet.. 2015 Jan;23(1):49-53.

 

First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, 'Larsen of Reunion Island syndrome' is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen ...

Last Updated: 16 Dec 2014

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The management of knee dislocation in a child with Larsen syndrome.
 

Author(s): Ali Al Kaissi, Rudolf Ganger, Klaus Klaushofer, Franz Grill

Journal: Clinics (Sao Paulo). 2011 ;66(7):1295-9.

 

Last Updated: 30 Aug 2011

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Reviews from the PubMed Database

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The terms "Larsen syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Comparison of Three Treatments for Lower Extremity Apophysitis
 

Status: Recruiting

Condition Summary: Osgood-Schlatter Syndrome; Sinding-Larsen and Johansson Syndrome; Sever's Disease; Apophysitis

 

Last Updated: 5 Apr 2013

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