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<span>Larsen syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/larsen-syndrome/</span>
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<h1>Larsen syndrome</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows. <a class="image-modal" data-alt="Foot abnormalities in a person with Larsen syndrome" data-caption="" data-credit="Larsen Syndrome Resource Center" data-filepath="images/PX00037S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00037S" data-sourceurl="https://larsensyndromeresourcecenter.com/" data-title="Foot abnormalities in a person with Larsen syndrome" href="https://medlineplus.gov/images/PX00037S_PRESENTATION.jpeg" id="PX00037S_1" title="Show image">Foot abnormalities<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, such as inward- and upward-turning feet (<a class="image-modal" data-alt="Photograph of an infant's inward- and upward-turning clubfeet." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000W0_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000W0" data-sourceurl="" data-title="Infant with clubfeet" href="https://medlineplus.gov/images/PX0000W0_PRESENTATION.jpeg" id="PX0000W0_2" title="Show image">clubfeet<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), are also common. Affected individuals generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the <a class="image-modal" data-alt="Thumb of a person with Larsen syndrome" data-caption="" data-credit="Larsen Syndrome Resource Center" data-filepath="images/PX00037O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00037O" data-sourceurl="https://larsensyndromeresourcecenter.com/" data-title="Thumb of a person with Larsen syndrome" href="https://medlineplus.gov/images/PX00037O_PRESENTATION.jpeg" id="PX00037O_3" title="Show image">thumbs<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, are typically blunt and square-shaped (spatulate).</p>
<p>Characteristic <a class="image-modal" data-alt="Headshot of a person with Larsen syndrome" data-caption="" data-credit="Larsen Syndrome Resource Center" data-filepath="images/PX00037C_PRESENTATION.jpeg" data-imgtype="Genetics" data-lang="us" data-pix="PX00037C" data-sourceurl="https://larsensyndromeresourcecenter.com/" data-title="Individual with Larsen syndrome" href="https://medlineplus.gov/images/PX00037C_PRESENTATION.jpeg" id="PX00037C_4" title="Show image">facial features<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a <a class="image-modal" data-alt="Baby with an opening in the roof of the mouth; inset shows greater detail." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FG" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft palate" href="https://medlineplus.gov/images/PX0000FG_PRESENTATION.jpeg" id="PX0000FG_5" title="Show image">cleft palate<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (<a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_6" title="Show image">ossicles<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p>
<p>Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (<a class="image-modal" data-alt="Knees and ankle abnormalities in a person with Larsen syndrome" data-caption="" data-credit="Larsen Syndrome Resource Center" data-filepath="images/PX000380_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000380" data-sourceurl="https://larsensyndromeresourcecenter.com/" data-title="Knee and ankle abnormalities in a person with Larsen syndrome" href="https://medlineplus.gov/images/PX000380_PRESENTATION.jpeg" id="PX000380_7" title="Show image">contractures<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) that restrict movement. People with Larsen syndrome can also have <a class="image-modal" data-alt="Diagrams showing sideways curvature of the spine in scoliosis and forward curvature of the upper spine in kyphosis" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX0001AC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001AC" data-sourceurl="" data-title="Abnormal curvature of the spine" href="https://medlineplus.gov/images/PX0001AC_PRESENTATION.jpeg" id="PX0001AC_8" title="Show image">abnormal curvature of the spine<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Larsen syndrome occurs in approximately 1 in 100,000 newborns. However, some doctors think the condition is more common and is misdiagnosed as other conditions with similar features.</p></div>
</section>
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<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="18743" href="https://medlineplus.gov/genetics/gene/flnb/">FLNB</a></i> gene cause Larsen syndrome. The <i>FLNB</i> gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (<a class="image-modal" data-alt="The three fibers of the cytoskeleton: microtubules in blue, intermediate filaments in red, and actin in green." data-caption="The three fibers of the cytoskeleton--microtubules in blue, intermediate filaments in red, and actin in green--play countless roles in the cell." data-credit="Judith Stoffer" data-filepath="images/PX0000B4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000B4" data-sourceurl="https://images.nigms.nih.gov/Pages/DetailPage.aspx?imageID=66" data-title="Cytoskeleton with microtubules in blue, intermediate filaments in red, and actin in green" href="https://medlineplus.gov/images/PX0000B4_PRESENTATION.jpeg" id="PX0000B4_2" title="Show image">cytoskeleton<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called <a class="image-modal" data-alt="An actin filament consisting of multiple subunits." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006O" data-sourceurl="" data-title="Structure of actin" href="https://medlineplus.gov/images/PX00006O_PRESENTATION.jpeg" id="PX00006O_3" title="Show image">actin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and helps the actin form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.</p><p>Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation), for maturation (differentiation) of chondrocytes, and for the ossification of cartilage.</p><p><i>FLNB</i> gene mutations that cause Larsen syndrome change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of Larsen syndrome.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Larsen syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/flnb/">FLNB</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">one affected parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Other cases result from <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_2" title="Show image">new mutations in the gene<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occur in people with no history of the disorder in their family.</p><p><a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_3" title="Show image">Autosomal recessive inheritance<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> of Larsen syndrome has been reported in a small number of families. Autosomal recessive means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an <i><a data-pid="18743" href="https://medlineplus.gov/genetics/gene/flnb/">FLNB</a></i> mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism.</p><p>A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by <i>FLNB</i> gene mutations.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
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<li>LRS</li>
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</section>
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<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0175778/" target="TheNewWin">Genetic Testing Registry: Larsen syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/6860/index" target="TheNewWin">Larsen syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/150250" target="TheNewWin">LARSEN SYNDROME; LRS</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28larsen+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y,
Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E,
Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson
LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and
clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007
Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26. <a href="https://pubmed.ncbi.nlm.nih.gov/16801345" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598053/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C,
Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H,
Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A,
Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in
the gene encoding filamin B disrupt vertebral segmentation, joint formation and
skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004
Feb 29. <a href="https://pubmed.ncbi.nlm.nih.gov/14991055" target="TheNewWin">Citation on PubMed</a></li>
<li>Sajnani AK, Yiu CK, King NM. Larsen syndrome: a review of the literature and
case report. Spec Care Dentist. 2010 Nov-Dec;30(6):255-60. doi:
10.1111/j.1754-4505.2010.00163.x. Epub 2010 Oct 19. <a href="https://pubmed.ncbi.nlm.nih.gov/21044106" target="TheNewWin">Citation on PubMed</a></li>
<li>Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associated
substitutions in the filamin B actin binding domain confer enhanced actin binding
affinity in the absence of major structural disturbance: Insights from the
crystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul
31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009. Epub 2009 Jun 6. <a href="https://pubmed.ncbi.nlm.nih.gov/19505475" target="TheNewWin">Citation on PubMed</a></li>
<li>Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE,
Johnston CE, Harris S, Cain NM, Wise CA. Mutations responsible for Larsen
syndrome cluster in the FLNB protein. J Med Genet. 2006 May;43(5):e24. doi:
10.1136/jmg.2005.038695. <a href="https://pubmed.ncbi.nlm.nih.gov/16648377" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564529/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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