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<span>Cranioectodermal dysplasia</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/cranioectodermal-dysplasia/</span>
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<h1>Cranioectodermal dysplasia</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.</p><p>Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (<a class="image-modal" data-alt="front view photo of forehead showing frontal bossing" data-caption="There is bilateral bulging of the lateral aspects of the forehead with relative sparing of the midline." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001JH_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001JH" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=a223995bdef3e8d6" data-title="Frontal bossing" href="https://medlineplus.gov/images/PX0001JH_PRESENTATION.jpeg" id="PX0001JH_1" title="Show image">frontal bossing<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) and an elongated head (<a class="image-modal" data-alt="Top and side views of two babies showing skulls that are longer than usual from front to back." data-caption="The skull has an increased antero-posterior dimension. Scaphocephaly is demonstrated on the right." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001FT_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001FT" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=b1c6362251bad427" data-title="Dolichocephaly" href="https://medlineplus.gov/images/PX0001FT_PRESENTATION.jpeg" id="PX0001FT_2" title="Show image">dolichocephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be <a class="image-modal" data-alt="Illustration of the side view of a head with dashed lines showing the normal positioning of an ear and a dashed line showing the positioning of a posteriorly rotated ear." data-caption="Measurement of posterior rotation of the ear. Angle is presently used to determine the degree of rotation." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001Z2_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001Z2" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=d6850b6df27359e2" data-title="Posteriorly rotated ear" href="https://medlineplus.gov/images/PX0001Z2_PRESENTATION.jpeg" id="PX0001Z2_3" title="Show image">rotated backward<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, an increased distance between the inner corners of the eyes (<a class="image-modal" data-alt="Two photographs of people's faces with their eyes showing telecanthus." data-caption="A: Telecanthus with normal interpupillary distance. B: Telecanthus with Widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001OU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001OU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=55fb0667392bab43" data-title="Telecanthus" href="https://medlineplus.gov/images/PX0001OU_PRESENTATION.jpeg" id="PX0001OU_4" title="Show image">telecanthus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and outside corners of the eyes that point upward or downward (<a class="image-modal" data-alt="Photograph of a child's face, showing eyes with upslanting palpebral fissures." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001SS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001SS" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=f103f00fcb26b7c4" data-title="Upslanting palpebral fissures" href="https://medlineplus.gov/images/PX0001SS_PRESENTATION.jpeg" id="PX0001SS_5" title="Show image">upslanting<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> or <a class="image-modal" data-alt="Photograph of a child's face with his eyes showing downslanting palpebral fissures." data-caption="This boy has Downslanted palpebral fissures, Widely spaced eyes, Proptosis, and Infra-orbital creases." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001NS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001NS" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=1c4dc8688933b9ef" data-title="Downslanting palpebral fissures" href="https://medlineplus.gov/images/PX0001NS_PRESENTATION.jpeg" id="PX0001NS_6" title="Show image">downslanting<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> palpebral fissures) among others.</p><p>Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (<a class="image-modal" data-alt="Photograph of the hands of a child with short fingers." data-caption="Note that this patient also has Short palms and cutaneous syndactyly of F4,5, right hand." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002FN_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002FN" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=1f410b8fecf151fa" data-title="Short fingers (brachydactyly of the hand)" href="https://medlineplus.gov/images/PX0002FN_PRESENTATION.jpeg" id="PX0002FN_7" title="Show image">brachydactyly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.</p><p>Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, <a class="image-modal" data-alt="Photograph of the inside of a person's mouth with small teeth." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00026B_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00026B" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=384c1789373a700e" data-title="Small teeth (microdontia)" href="https://medlineplus.gov/images/PX00026B_PRESENTATION.jpeg" id="PX00026B_8" title="Show image">small<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> or missing teeth, short fingernails and <a class="image-modal" data-alt="Photograph of a foot with small toenails." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002EV_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002EV" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=164fef3895cda7aa" data-title="Small nails (micronychia)" href="https://medlineplus.gov/images/PX0002EV_PRESENTATION.jpeg" id="PX0002EV_9" title="Show image">toenails<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and loose skin.</p><p>Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as <a data-pid="16393" href="https://medlineplus.gov/genetics/condition/nephronophthisis/">nephronophthisis</a> occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition 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>Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the <i><a data-pid="19239" href="https://medlineplus.gov/genetics/gene/wdr35/">WDR35</a></i>, <i><a data-pid="19233" href="https://medlineplus.gov/genetics/gene/ift122/">IFT122</a></i>, <i><a data-pid="19237" href="https://medlineplus.gov/genetics/gene/wdr19/">WDR19</a></i>, or <i><a data-pid="19235" href="https://medlineplus.gov/genetics/gene/ift43/">IFT43</a></i> gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out from the surface of cells. These structures are important for the development and function of many types of cells and tissues. The IFT-A complex is involved in a process called intraflagellar transport, which <a class="image-modal" data-alt="The cilium is a tail-like protrusion from the apical plasma membrane of the cell. It is composed of two compartments: the basal body from which the cilium is initially assembled, and the ciliary axoneme that protrudes from the plasma membrane. Cilia assembly and signaling depend on ciliary transport known as intraflagellar transport (IFT). This transport process occurs bidirectionally along the axonemal microtubules from the ciliary base to its tip (anterograde transport) and back (retrograde transport). While anterograde transport is driven by the kinesin-2 motor and the IFT-B complex, the dynein-2 motor and the IFT-A complex regulate transport in the opposite direction. The IFT-A complex consists of six different proteins. The IFT-B complex consists of at least 12 proteins." data-caption="The cilium is a tail-like protrusion from the apical plasma membrane of the cell. It is composed of two compartments: the basal body from which the cilium is initially assembled, and the ciliary axoneme that protrudes from the plasma membrane. Cilia assembly and signaling depend on ciliary transport known as intraflagellar transport (IFT). This transport process occurs bidirectionally along the axonemal microtubules from the ciliary base to its tip (anterograde transport) and back (retrograde transport). While anterograde transport is driven by the kinesin-2 motor and the IFT-B complex, the dynein-2 motor and the IFT-A complex regulate transport in the opposite direction. The IFT-A complex consists of six different proteins. The IFT-B complex consists of at least 12 proteins." data-credit="GeneReviews, University of Washington" data-filepath="images/PX0002ZA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002ZA" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK154653/figure/ce-dysp.F2/?report=objectonly" data-title="Cilium and ciliary transport" href="https://medlineplus.gov/images/PX0002ZA_PRESENTATION.jpeg" id="PX0002ZA_5" title="Show image">moves substances within cilia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. This movement is essential for the assembly and maintenance of these structures. The IFT-A complex carries materials from the tip to the base of cilia.</p><p>Mutations in any of the four mentioned genes reduce the amount or function of one of the IFT-A subunits. Shortage or abnormal function of a single component of the IFT-A complex impairs the function of the entire complex, disrupting the assembly and maintenance of cilia. These mutations lead to a smaller number of cilia and to abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia.</p><p>About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in people without mutations in one of these genes is unknown.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Cranioectodermal dysplasia</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/ift122/">IFT122</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/ift43/">IFT43</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/wdr19/">WDR19</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/wdr35/">WDR35</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 <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 typically do not show signs and symptoms of the condition.</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>CED</li> <li>Sensenbrenner syndrome</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/C0432235/" target="TheNewWin">Genetic Testing Registry: Cranioectodermal dysplasia 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/C3150874/" target="TheNewWin">Genetic Testing Registry: Cranioectodermal dysplasia 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>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3279807/" target="TheNewWin">Genetic Testing Registry: Cranioectodermal dysplasia 3</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/C3280616/" target="TheNewWin">Genetic Testing Registry: Cranioectodermal dysplasia 4</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/359/index" target="TheNewWin">Cranioectodermal dysplasia</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>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Cranioectodermal dysplasia%22" target="TheNewWin">ClinicalTrials.gov</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>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/218330" target="TheNewWin">CRANIOECTODERMAL DYSPLASIA 1; CED1</a></li>
<li><a href="https://omim.org/entry/614378" target="TheNewWin">CRANIOECTODERMAL DYSPLASIA 4; CED4</a></li>
<li><a href="https://omim.org/entry/614099" target="TheNewWin">CRANIOECTODERMAL DYSPLASIA 3; CED3</a></li>
<li><a href="https://omim.org/entry/613610" target="TheNewWin">CRANIOECTODERMAL DYSPLASIA 2; CED2</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=%28%28cranioectodermal+dysplasia%5BTIAB%5D%29+OR+%28sensenbrenner+syndrome%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+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>Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ,
Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and
molecular analyses of 39 patients including two new patients. Am J Med Genet A.
2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3. <a href="https://pubmed.ncbi.nlm.nih.gov/24123776" target="TheNewWin">Citation on PubMed</a></li>
<li>Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol. 2002
Nov;3(11):813-25. doi: 10.1038/nrm952. <a href="https://pubmed.ncbi.nlm.nih.gov/12415299" target="TheNewWin">Citation on PubMed</a></li>
<li>Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12
[updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE,
Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University
of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK154653/
<a href="https://pubmed.ncbi.nlm.nih.gov/24027799" target="TheNewWin">Citation on PubMed</a></li>
<li>Taschner M, Bhogaraju S, Lorentzen E. Architecture and function of IFT complex
proteins in ciliogenesis. Differentiation. 2012 Feb;83(2):S12-22. doi:
10.1016/j.diff.2011.11.001. Epub 2011 Nov 25. <a href="https://pubmed.ncbi.nlm.nih.gov/22118932" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977345/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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data-credit="© 2008 Terese Winslow LLC for the National Cancer Institute"
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<li><a href="https://medlineplus.gov/ency/article/001469.htm">Ectodermal dysplasia</a></li>
<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
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<li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/runsinfamily/">What does it mean if a disorder seems to run in my family?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/consult/treatment/">How are genetic conditions treated or managed?</a></li>
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