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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Condition Specific Organizations

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

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General Support Organizations

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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:

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
 

Author(s): Nisha Patel, Hanan E Shamseldin, Nadia Sakati, Arif O Khan, Ameen Softa, Fatima M Al-Fadhli, Mais Hashem, Firdous M Abdulwahab, Tarfa Alshidi, Rana Alomar, Eman Alobeid, Salma M Wakil, Dilek Colak, Fowzan S Alkuraya

Journal: Am. J. Hum. Genet.. 2017 May;100(5):831-836.

 

Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been more recently described, thus confirming ...

Last Updated: 5 May 2017

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Arthroscopic treatment of painful Sinding-Larsen-Johansson syndrome in a professional handball player.
 

Author(s): C Kajetanek, M Thaunat, T Guimaraes, O Carnesecchi, M Daggett, B Sonnery-Cottet

Journal: Orthop Traumatol Surg Res. 2016 Sep;102(5):677-80.

 

Sinding-Larsen-Johansson (SLJ) syndrome is a type of osteochondrosis of the distal pole of the patella most often caused by repeated microtrauma. Here, we describe the case of a professional athlete with painful SLJ syndrome treated arthroscopically. A 29-year-old male professional ...

Last Updated: 15 Aug 2016

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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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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Larsen syndrome" returned 0 free, full-text review articles on human participants.

 
 
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