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<span>Fibrochondrogenesis</span>
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<h1>Fibrochondrogenesis</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.</p><p>Fibrochondrogenesis is characterized by short stature (dwarfism) and other skeletal abnormalities. Affected individuals have shortened long bones in the arms and legs that are unusually wide at the ends (described as dumbbell-shaped). People with this condition also have a narrow chest with short, wide ribs and a round and prominent abdomen. The bones of the spine (vertebrae) are flattened (platyspondyly) and have a characteristic pinched or pear shape that is noticeable on x-rays. Other skeletal abnormalities associated with fibrochondrogenesis include <a class="image-modal" data-alt="Illustration comparing normal spine to increased curvature of upper spine in kyphosis and increased curvature of lower spine in lordosis" data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX000138_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000138" data-sourceurl="" data-title="Normal spine compared to kyphosis and lordosis" href="https://medlineplus.gov/images/PX000138_PRESENTATION.jpeg" id="PX000138_1" 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> and underdeveloped hip (pelvic) bones.</p><p>People with fibrochondrogenesis also have distinctive facial features. These include <a class="image-modal" data-alt="Photograph of the face of a person with prominent eyes." data-caption="Bilateral Proptosis." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001T8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001T8" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=765f49f1e824f0d2" data-title="Prominent eyes (proptosis)" href="https://medlineplus.gov/images/PX0001T8_PRESENTATION.jpeg" id="PX0001T8_2" title="Show image">prominent eyes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, low-set ears, a <a class="image-modal" data-alt="Photograph of a baby's narrow mouth." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00024B_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00024B" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=dbaf4cd806daeacb" data-title="Narrow mouth (microstomia)" href="https://medlineplus.gov/images/PX00024B_PRESENTATION.jpeg" id="PX00024B_3" title="Show image">small mouth<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with a long upper lip, and a small chin (<a class="image-modal" data-alt="Photograph of the face of a person with micrognathia." data-caption="There is shortening and narrowing of the mandible and chin." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001LU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001LU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8bbf61b4ad7ca2ef" data-title="Micrognathia" href="https://medlineplus.gov/images/PX0001LU_PRESENTATION.jpeg" id="PX0001LU_4" title="Show image">micrognathia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Affected individuals have a relatively flat-appearing midface, particularly a <a class="image-modal" data-alt="Three photographs of faces showing a short nose from different angles." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX000223_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000223" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=daeb9fb85b0b970f" data-title="Short nose" href="https://medlineplus.gov/images/PX000223_PRESENTATION.jpeg" id="PX000223_5" title="Show image">small nose<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with a <a class="image-modal" data-alt="Photographs of two children's faces showing depressed nasal bridge from the front and side views." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00020R_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00020R" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=000fb29123c16757" data-title="Depressed nasal bridge" href="https://medlineplus.gov/images/PX00020R_PRESENTATION.jpeg" id="PX00020R_6" title="Show image">flat nasal bridge<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and nostrils that open to the front rather than downward (<a class="image-modal" data-alt="Photographs of three children's faces with their noses showing anteverted nares. The photographs show the front and side views." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001ZZ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001ZZ" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=d7284223e790d7aa" data-title="Anteverted nares" href="https://medlineplus.gov/images/PX0001ZZ_PRESENTATION.jpeg" id="PX0001ZZ_7" title="Show image">anteverted nares<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Vision problems, including severe <a data-pid="16905" href="https://medlineplus.gov/genetics/condition/nearsightedness/">nearsightedness</a> (high <a class="image-modal" data-alt="Diagram of light entering an eye with myopia." data-caption="" data-credit="National Eye Institute/National Institutes of Health" data-filepath="images/PX00000O_PRESENTATION.png" data-imgtype="genetics" data-pix="PX00000O" data-sourceurl="https://www.flickr.com/photos/nationaleyeinstitute/" data-title="Myopia (nearsightedness)" href="https://medlineplus.gov/images/PX00000O_PRESENTATION.png" id="PX00000O_9" title="Show image">myopia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) and clouding of the lens of the eye (<a class="image-modal" data-alt="Drawing of a healthy eye with a clear lens compared to an eye with a lens clouded by cataract." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000US_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000US" data-sourceurl="" data-title="Healthy eye and eye with cataract" href="https://medlineplus.gov/images/PX0000US_PRESENTATION.jpeg" id="PX0000US_10" title="Show image">cataract<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), are common in those who survive infancy. Most affected individuals also have sensorineural hearing loss, which is caused by abnormalities of the <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_11" title="Show image">inner ear<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p></div>
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</section>
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||
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||
</div>
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||
<div class="mp-exp exp-full" data-bookmark="frequency">
|
||
<h2>Frequency</h2>
|
||
|
||
<section><div class="mp-content"><p>Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="causes">
|
||
<h2>Causes</h2>
|
||
|
||
<section><div class="mp-content"><p>Fibrochondrogenesis can result from mutations in the <i><a data-pid="17197" href="https://medlineplus.gov/genetics/gene/col11a1/">COL11A1</a></i> or <i><a data-pid="17195" href="https://medlineplus.gov/genetics/gene/col11a2/">COL11A2</a></i> gene. When the condition is caused by <i>COL11A1</i> gene mutations, it is designated as type 1; when it is caused by <i>COL11A2</i> gene mutations, it is designated as type 2. Both of these genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the <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_3" title="Show image">inner ear<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between vertebrae.</p><p>Mutations in the <i>COL11A1</i> or <i>COL11A2</i> gene impair the assembly of type XI collagen, in most cases leading to the production of abnormal collagen molecules. The defective collagen weakens connective tissues, impairing the formation of bones throughout the skeleton and causing changes in the eye and inner ear that lead to vision and hearing problems.</p></div>
|
||
</section>
|
||
|
||
<section>
|
||
|
||
<div class="related-genes mp-exp exp-full">
|
||
|
||
<h3>Learn more about the genes associated with Fibrochondrogenesis</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/col11a1/">COL11A1</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/col11a2/">COL11A2</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>Fibrochondrogenesis is generally inherited in an <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_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which 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 usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss.</p><p>In at least one case of fibrochondrogenesis caused by a <i><a data-pid="17195" href="https://medlineplus.gov/genetics/gene/col11a2/">COL11A2</a></i> gene mutation, the condition was inherited in an <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_3" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In this case, the condition resulted from a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) in one of the affected individual's parents. There was no history of the disorder in the family.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>FBCG1</li> <li>FBCG2</li> <li>Fibrochondrogenesis-1</li> <li>Fibrochondrogenesis-2</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<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/C3278138/" target="TheNewWin">Genetic Testing Registry: Fibrochondrogenesis 1</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>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3281128/" target="TheNewWin">Genetic Testing Registry: Fibrochondrogenesis 2</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/2321/index" target="TheNewWin">Fibrochondrogenesis</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/228520" target="TheNewWin">FIBROCHONDROGENESIS 1; FBCG1</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/614524" target="TheNewWin">FIBROCHONDROGENESIS 2; FBCG2</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=%28fibrochondrogenesis%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%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>Akawi NA, Al-Gazali L, Ali BR. Clinical and molecular analysis of UAE
|
||
fibrochondrogenesis patients expands the phenotype and reveals two COL11A1
|
||
homozygous null mutations. Clin Genet. 2012 Aug;82(2):147-56. doi:
|
||
10.1111/j.1399-0004.2011.01734.x. Epub 2011 Jul 18. <a href="https://pubmed.ncbi.nlm.nih.gov/21668896" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Akawi NA, Ali BR, Al-Gazali L. A response to Dr. Alzahrani's letter to the
|
||
editor regarding the mechanism underlying fibrochondrogenesis. Gene. 2013 Oct
|
||
10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul 29. No abstract
|
||
available. <a href="https://pubmed.ncbi.nlm.nih.gov/23906683" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Alzahrani F, Alshammari MJ, Alkuraya FS. Molecular pathogenesis of
|
||
fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene. 2012 Dec
|
||
15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep 28. No abstract
|
||
available. <a href="https://pubmed.ncbi.nlm.nih.gov/23026214" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Bekdache GN, Begam MA, Chedid F, Al-Gazali L, Mirghani H. Fibrochondrogenesis:
|
||
prenatal diagnosis and outcome. J Obstet Gynaecol. 2013 Oct;33(7):663-8. doi:
|
||
10.3109/01443615.2013.817977. <a href="https://pubmed.ncbi.nlm.nih.gov/24127948" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF,
|
||
Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH.
|
||
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
|
||
Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub
|
||
2010 Oct 28. <a href="https://pubmed.ncbi.nlm.nih.gov/21035103" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978944/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA,
|
||
Nevarez L, Krakow D, Cohn DH. Dominant and recessive forms of fibrochondrogenesis
|
||
resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012
|
||
Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13. <a href="https://pubmed.ncbi.nlm.nih.gov/22246659" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264686/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
</ul>
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||
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