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<span>Nonsyndromic holoprosencephaly</span>
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<h1>Nonsyndromic holoprosencephaly</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Nonsyndromic holoprosencephaly is an abnormality of <a class="image-modal" data-alt="A side view of the brain with various anatomical structures labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX000040_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000040" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Side view of brain" href="https://medlineplus.gov/images/PX000040_PRESENTATION.jpeg" id="PX000040_1" title="Show image">brain<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> development that also affects the head and face. Normally, the brain divides into two halves (<a class="image-modal" data-alt="Front view of the brain with the right and left cerebral hemispheres, cerebellum, and brain stem labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX00003S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00003S" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Front view of brain" href="https://medlineplus.gov/images/PX00003S_PRESENTATION.jpeg" id="PX00003S_2" title="Show image">hemispheres<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.</p><p>Nonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as <a class="image-modal" data-alt="Photo A shows an MRI of alobar holoprosencephaly, the most severe form of HPE, characterized by an enlarged midline monoventricle (holoventricle, red/thin arrow) with fusion of the frontal lobes and the midline gray matter structures (thalami and basal ganglia, blue/thick arrow). Typically, the corpus callosum and the third ventricle are absent. Photo B shows an infant with alobar holoprosencephaly, which is characterized by a single eye-like structure (red/thin arrow) and a nose-like structure (blue/thick arrow)" data-caption="Photo A shows an MRI of alobar holoprosencephaly, the most severe form of HPE, characterized by an enlarged midline monoventricle (holoventricle, red/thin arrow) with fusion of the frontal lobes and the midline gray matter structures (thalami and basal ganglia, blue/thick arrow). Typically, the corpus callosum and the third ventricle are absent. Photo B shows an infant with alobar holoprosencephaly, which is characterized by a single eye-like structure (red/thin arrow) and a nose-like structure (blue/thick arrow)" data-credit="GeneReviews, University of Washington" data-filepath="images/PX00031X_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00031X" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1530/figure/hpe-overview.F1/?report=objectonly" data-title="Alobar holoprosencephaly" href="https://medlineplus.gov/images/PX00031X_PRESENTATION.jpeg" id="PX00031X_3" title="Show image">alobar<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, <a class="image-modal" data-alt="Photo A is of a brain showing semilobar holoprosencephaly. There is fusion of the frontal lobes, but presence of some septation posteriorly with presence of a falx and interhemispheric fissure (red/thin arrow). More significant fusion of anterior brain structures (cortex, basal ganglia, thalamus) persists in this variant (blue/thick arrows). Photo B is of an infant with semilobar holoprosencephaly showing microcephaly, closely spaced eyes, depressed nasal ridge with cleft lip." data-caption="Photo A is of a brain showing semilobar holoprosencephaly. There is fusion of the frontal lobes, but presence of some septation posteriorly with presence of a falx and interhemispheric fissure (red/thin arrow). More significant fusion of anterior brain structures (cortex, basal ganglia, thalamus) persists in this variant (blue/thick arrows). Photo B is of an infant with semilobar holoprosencephaly showing microcephaly, closely spaced eyes, depressed nasal ridge with cleft lip." data-credit="GeneReviews, University of Washington" data-filepath="images/PX000324_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000324" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1530/figure/hpe-overview.F2/?report=objectonly" data-title="Semilobar holoprosencephaly" href="https://medlineplus.gov/images/PX000324_PRESENTATION.jpeg" id="PX000324_4" title="Show image">semi-lobar<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, <a class="image-modal" data-alt="Photo A is an MRI of a brain showing lobular holoprosencephaly. The cerebral hemispheres are separated (blue/thick arrows); the ventricles are misshapen. There is varying degree of fusion of the midline gray structures (thalami, basal ganglia, red/thin arrow). Photo B is of a child with lobular holoprosencephaly showing upslanted palpebral fissures, large ears, a depressed nasal bridge, and a broad and well-defined philtrum." data-caption="Photo A is an MRI of a brain showing lobular holoprosencephaly. The cerebral hemispheres are separated (blue/thick arrows); the ventricles are misshapen. There is varying degree of fusion of the midline gray structures (thalami, basal ganglia, red/thin arrow). Photo B is of a child with lobular holoprosencephaly showing upslanted palpebral fissures, large ears, a depressed nasal bridge, and a broad and well-defined philtrum." data-credit="GeneReviews, University of Washington" data-filepath="images/PX00032B_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00032B" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1530/figure/hpe-overview.F3/?report=objectonly" data-title="Lobular holoprosencephaly" href="https://medlineplus.gov/images/PX00032B_PRESENTATION.jpeg" id="PX00032B_5" title="Show image">lobar<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and <a class="image-modal" data-alt="Photo A is an MRI of a brain showing the middle interhemispheric fusion variant of holoprosencephaly. The sylvian fissures are oriented nearly vertically and are abnormally connected across the midline over the vertex of the brain (red/thin arrows). Photo B shows an affected boy. Individuals with this type of holoprosencephaly usually have a normal facial features." data-caption="Photo A is an MRI of a brain showing the middle interhemispheric fusion variant of holoprosencephaly. The sylvian fissures are oriented nearly vertically and are abnormally connected across the midline over the vertex of the brain (red/thin arrows). Photo B shows an affected boy. Individuals with this type of holoprosencephaly usually have a normal facial features." data-credit="GeneReviews, University of Washington" data-filepath="images/PX00032F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00032F" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1530/figure/hpe-overview.F4/?report=objectonly" data-title="Middle interhemispheric fusion variant of holoprosencephaly" href="https://medlineplus.gov/images/PX00032F_PRESENTATION.jpeg" id="PX00032F_6" title="Show image">middle interhemispheric variant<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.</p><p>People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include 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_7" 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>) with or without 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_8" 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>), one central front tooth instead of two (a <a class="image-modal" data-alt="Photograph of a person's open mouth with their top row of teeth showing a single maxillary central incisor." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX000257_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000257" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=e271e640309491ed" data-title="Single maxillary central incisor" href="https://medlineplus.gov/images/PX000257_PRESENTATION.jpeg" id="PX000257_9" title="Show image">single maxillary central incisor<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and a flat nasal bridge. The eyeballs may be abnormally small (<a data-pid="15583" href="https://medlineplus.gov/genetics/condition/microphthalmia/">microphthalmia</a>) or absent (anophthalmia).</p><p>Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a <a class="image-modal" data-alt="Front view photo of a child with a narrow forehead" data-caption="Note the decreased distance between the two sides of the forehead with narrowing at the temples." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001IP_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001IP" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=03f02219fe5521b4" data-title="Narrow forehead" href="https://medlineplus.gov/images/PX0001IP_PRESENTATION.jpeg" id="PX0001IP_11" title="Show image">narrowing of the head at the temples<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, outside corners of the eyes that point upward (<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_12" title="Show image">upslanting palpebral fissures<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), large ears, 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_13" title="Show image">short nose<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with upturned nostrils, and a <a class="image-modal" data-alt="A group of photographs showing three cases of broad philtrum." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002G3_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002G3" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=1fdb03ff8bb336d0" data-title="Broad philtrum" href="https://medlineplus.gov/images/PX0002G3_PRESENTATION.jpeg" id="PX0002G3_14" title="Show image">broad<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and <a class="image-modal" data-alt="A group of photographs showing six cases of deep philtrum." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002G7_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002G7" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=3c771454d4293f5e" data-title="Deep philtrum" href="https://medlineplus.gov/images/PX0002G7_PRESENTATION.jpeg" id="PX0002G7_15" title="Show image">deep<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.</p><p>Most people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.</p></div>
|
||
</section>
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|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="frequency">
|
||
<h2>Frequency</h2>
|
||
|
||
<section><div class="mp-content"><p>Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="causes">
|
||
<h2>Causes</h2>
|
||
|
||
<section><div class="mp-content"><p>Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. These genes provide instructions for making proteins that are important for normal embryonic development, particularly for determining the shape of the <a class="image-modal" data-alt="A side view of the brain with various anatomical structures labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX000040_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000040" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Side view of brain" href="https://medlineplus.gov/images/PX000040_PRESENTATION.jpeg" id="PX000040_1" title="Show image">brain<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and face. About 25 percent of people with nonsyndromic holoprosencephaly have a mutation in one of these four genes: <i><a data-pid="18499" href="https://medlineplus.gov/genetics/gene/shh/">SHH</a></i>, <i><a data-pid="18503" href="https://medlineplus.gov/genetics/gene/zic2/">ZIC2</a></i>, <i><a data-pid="18501" href="https://medlineplus.gov/genetics/gene/six3/">SIX3</a></i>, or <i><a data-pid="18505" href="https://medlineplus.gov/genetics/gene/tgif1/">TGIF1</a></i>. Mutations in the other genes related to nonsyndromic holoprosencephaly are found in only a small percentage of cases. Many individuals with this condition do not have an identified gene mutation. The cause of the disorder is unknown in these individuals.</p><p>The brain normally divides into right and left <a class="image-modal" data-alt="Front view of the brain with the right and left cerebral hemispheres, cerebellum, and brain stem labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX00003S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00003S" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Front view of brain" href="https://medlineplus.gov/images/PX00003S_PRESENTATION.jpeg" id="PX00003S_6" title="Show image">hemispheres<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> during the third to fourth week of pregnancy. To establish the line that separates the two hemispheres (the midline), the activity of many genes must be tightly regulated and coordinated. These genes provide instructions for making signaling proteins, which instruct the cells within the brain to form the right and left hemispheres.</p><p>Signaling proteins are also important for the formation of the <a class="image-modal" data-alt="Diagram of a normal eye with major structures labeled." data-caption="" data-credit="National Eye Institute/National Institutes of Health" data-filepath="images/PX000014_PRESENTATION.png" data-imgtype="genetics" data-pix="PX000014" data-sourceurl="" data-title="Normal eye anatomy" href="https://medlineplus.gov/images/PX000014_PRESENTATION.png" id="PX000014_7" title="Show image">eyes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. During early development, the cells that develop into the eyes form a single structure called the eye field. This structure is located in the center of the developing face. The signaling protein produced from the <i>SHH</i> gene causes the eye field to separate into two distinct eyes. The <i>SIX3</i> gene is involved in the formation of the lens of the eye and the specialized tissue at the back of the eye that detects light and color (the retina).</p><p>Mutations in the genes that cause nonsyndromic holoprosencephaly lead to the production of abnormal or nonfunctional signaling proteins. Without the correct signals, the eyes will not form normally and the brain does not separate into two hemispheres. The development of other parts of the face is affected if the eyes do not move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.</p><p>Researchers believe that other genetic or environmental factors, many of which have not been identified, play a role in determining the severity of nonsyndromic holoprosencephaly.</p></div>
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||
</section>
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||
|
||
<section>
|
||
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||
<div class="related-genes mp-exp exp-full">
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|
||
<h3>Learn more about the genes associated with Nonsyndromic holoprosencephaly</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/fgf8/">FGF8</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/ptch1/">PTCH1</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/shh/">SHH</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/six3/">SIX3</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/tgif1/">TGIF1</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/zic2/">ZIC2</a></li>
|
||
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||
|
||
</ul>
|
||
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||
<p><strong>Additional Information from NCBI Gene:</strong></p>
|
||
<ul class="relatedmp">
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||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/84976" target="TheNewWin">DISP1</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/8928" target="TheNewWin">FOXH1</a></li>
|
||
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||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/2736" target="TheNewWin">GLI2</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/4838" target="TheNewWin">NODAL</a></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gene/6997" target="TheNewWin">TDGF1</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
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||
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="inheritance">
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||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition.</p><p>In some cases, an affected person <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">inherits the mutation from one parent<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> who may or may not have mild features of the condition. Other cases result from a <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 gene mutation<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></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Holoprosencephaly sequence</li> <li>Isolated holoprosencephaly</li> <li>Isolated HPE</li> <li>Non-syndromic, non-chromosomal holoprosencephaly</li> <li>Non-syndromic, non-chromosomal HPE</li> <li>Nonsyndromic HPE</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/C0079541/" target="TheNewWin">Genetic Testing Registry: Holoprosencephaly sequence</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/6665/index" target="TheNewWin">Holoprosencephaly</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/142945" target="TheNewWin">HOLOPROSENCEPHALY 3; HPE3</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/142946" target="TheNewWin">HOLOPROSENCEPHALY 4; HPE4</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/157170" target="TheNewWin">HOLOPROSENCEPHALY 2; HPE2</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/236100" target="TheNewWin">HOLOPROSENCEPHALY 1; HPE1</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/605934" target="TheNewWin">HOLOPROSENCEPHALY 6; HPE6</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/610828" target="TheNewWin">HOLOPROSENCEPHALY 7; HPE7</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/610829" target="TheNewWin">HOLOPROSENCEPHALY 9; HPE9</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/609408" target="TheNewWin">HOLOPROSENCEPHALY 8; HPE8</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/609637" target="TheNewWin">HOLOPROSENCEPHALY 5; HPE5</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%28nonsyndromic+holoprosencephaly%29+OR+%28holoprosencephaly%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1080+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>Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.
|
||
Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi:
|
||
10.1186/1750-1172-2-8. <a href="https://pubmed.ncbi.nlm.nih.gov/17274816" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1802747/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Fernandes M, Hebert JM. The ups and downs of holoprosencephaly: dorsal versus
|
||
ventral patterning forces. Clin Genet. 2008 May;73(5):413-23. doi:
|
||
10.1111/j.1399-0004.2008.00994.x. Epub 2008 Apr 2. <a href="https://pubmed.ncbi.nlm.nih.gov/18394003" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Monuki ES. The morphogen signaling network in forebrain development and
|
||
holoprosencephaly. J Neuropathol Exp Neurol. 2007 Jul;66(7):566-75. doi:
|
||
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<li>Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. Current
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<li>Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med
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<li>Solomon BD, Mercier S, Velez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg
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<li>Solomon BD, Pineda-Alvarez DE, Mercier S, Raam MS, Odent S, Muenke M.
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<li>Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview. 2000 Dec
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Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University
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||
of Washington, Seattle; 1993-2025. Available from
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||
http://www.ncbi.nlm.nih.gov/books/NBK1530/
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<a href="https://pubmed.ncbi.nlm.nih.gov/20301702" target="TheNewWin">Citation on PubMed</a></li>
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data-title="Facial features in different types of holoprosencephaly"
|
||
data-caption="Photo A shows an infant with alobar holoprosencephaly and cyclopia and proboscis above the single eye. Photo B shows an infant with alobar holoprosencephaly and cebocephaly and closely spaced eyes. Photo C shows an infant with semilobar holoprosencephaly and microcephaly, cleft lip, and cleft palate. Photo D shows a child with semilobar holoprosencephaly and closely spaced eyes and midface retraction."
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data-credit="GeneReviews, University of Washington"
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data-alt="Photo A shows an infant with alobar holoprosencephaly and cyclopia and proboscis above the single eye. Photo B shows an infant with alobar holoprosencephaly and cebocephaly and closely spaced eyes. Photo C shows an infant with semilobar holoprosencephaly and microcephaly, cleft lip, and cleft palate. Photo D shows a child with semilobar holoprosencephaly and closely spaced eyes and midface retraction."
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