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<span>Miller syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/miller-syndrome/</span>
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<h1>Miller syndrome</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.</p><p>Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (<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_1" title="Show image">micrognathia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). They often have an opening in the roof of the mouth (<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_2" 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>) and/or a split in the upper lip (<a class="image-modal" data-alt="Baby with an opening between the upper lip and the nose." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FK" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft lip" href="https://medlineplus.gov/images/PX0000FK_PRESENTATION.jpeg" id="PX0000FK_3" title="Show image">cleft lip<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems.</p><p>People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (<a class="image-modal" data-alt="Photograph of a child's face, showing eyes with everted lower eyelids." data-caption="Ectropion of the lower lid, or outward turned (everted) lower eyelid margins." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001P2_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001P2" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=49cad0d3ae6a54ac" data-title="Everted eyelids (ectropion)" href="https://medlineplus.gov/images/PX0001P2_PRESENTATION.jpeg" id="PX0001P2_4" title="Show image">ectropion<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and a notch in the lower eyelids called an <a class="image-modal" data-alt="Photograph of a child's face, showing a cleft in the lower eyelid." data-caption="Cleft lower, outer eyelid in a child." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001S8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001S8" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=dec367cb72e7cf0b" data-title="Cleft eyelid" href="https://medlineplus.gov/images/PX0001S8_PRESENTATION.jpeg" id="PX0001S8_5" title="Show image">eyelid coloboma<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Many affected individuals have small, <a class="image-modal" data-alt="Photograph of a cupped ear." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001XU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001XU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=f80f8a26dad490c9" data-title="Cupped ear" href="https://medlineplus.gov/images/PX0001XU_PRESENTATION.jpeg" id="PX0001XU_6" title="Show image">cup-shaped ears<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and some have hearing loss caused by defects in 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_7" title="Show image">middle ear<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (conductive hearing loss). Another feature of this condition is the presence of extra nipples. Miller syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.</p><p>Individuals with Miller syndrome have various bone abnormalities in their arms and legs. The most common problem is absent fifth (pinky) fingers and toes. Affected individuals may also have webbed or fused fingers or toes (syndactyly) and abnormally formed bones in the forearms and lower legs. People with Miller syndrome sometimes have defects in other bones, such as the ribs or spine.</p><p>Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported 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>Mutations in the <i><a data-pid="18521" href="https://medlineplus.gov/genetics/gene/dhodh/">DHODH</a></i> gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Specifically, dihydroorotate dehydrogenase converts a molecule called dihydroorotate to a molecule called orotic acid. In subsequent steps, other enzymes modify orotic acid to produce pyrimidines.</p><p>Miller syndrome disrupts the development of structures called the first and second pharyngeal arches. The pharyngeal arches are five paired structures that form on each side of the head and neck during embryonic development. These structures develop into the bones, skin, nerves, and muscles of the head and neck. In particular, the first and second pharyngeal arches develop into the jaw, the nerves and muscles for chewing and facial expressions, the bones in the middle ear, and the outer ear. It remains unclear exactly how <i>DHODH</i> gene mutations lead to abnormal development of the pharyngeal arches in people with Miller syndrome.</p><p>Development of the arms and legs is also affected by Miller syndrome. Each limb starts out as a small mound of tissue called a limb bud, which grows outward. Many different proteins are involved in the normal shaping (patterning) of each limb. Once the overall pattern of a limb is formed, detailed shaping can take place. For example, to create individual fingers and toes, certain cells self-destruct (undergo apoptosis) to remove the webbing between each digit. The role dihydroorotate dehydrogenase plays in limb development is not known. It is also unknown how mutations in the <i>DHODH</i> gene cause bone abnormalities in the arms and legs of people with Miller syndrome.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Miller syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/dhodh/">DHODH</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>Genee-Wiedemann acrofacial dysostosis</li> <li>Genee-Wiedemann syndrome</li> <li>Postaxial acrofacial dysostosis (POADS)</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/C0265257/" target="TheNewWin">Genetic Testing Registry: Miller 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/8410/index" target="TheNewWin">Postaxial acrofacial dysostosis</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=%22Miller syndrome%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/263750" target="TheNewWin">MILLER SYNDROME</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%28miller+syndrome%5BTIAB%5D%29+OR+%28postaxial+acrofacial+dysostosis%5BTIAB%5D%29%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>Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet.
2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13. <a href="https://pubmed.ncbi.nlm.nih.gov/20037612" target="TheNewWin">Citation on PubMed</a></li>
<li>Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr.
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