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Cleidocranial dysplasia (CCD)CCleidocranial dysplasia (CCD)Cleidocranial dysplasia (CCD)EnglishGeneticsChild (0-12 years);Teen (13-18 years)Skull;TeethBonesConditions and diseasesCaregivers Adult (19+)NA2012-08-19T04:00:00ZNA8.0000000000000059.00000000000001191.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Cleidocranial dysplasia is a genetic disorder that affects the development of bones and teeth. Learn what to expect with a diagnosis of CCD.</p><h2>What is cleidocranial dysplasia (CCD)?</h2><p>Cleidocranial dysplasia (say: clie-doh-CRAY-nee-ul diss-PLAY-zee-a) is a genetic condition that mainly affects: </p><ul><li>the development of bones (particularly the skull and collarbones)</li><li>the teeth</li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Clavical_MED_ILL_EN.png" alt="" /> <figcaption class="asset-image-caption">A child with CCD may have partly or completely missing collarbones.</figcaption></figure><h2>Key points</h2> <ul> <li>CCD is a genetic condition that affects the development of bones (particularly the skull and collarbones). It also affects the teeth.</li> <li>Children with CCD need to be followed by their health care team for their symptoms.</li> <li>Genetic counselling can help families understand CCD, the options for managing it and the chances that other children will also be affected.</li> <li>People with CCD generally lead healthy and productive lives.</li> </ul><h2>How cleidocranial dysplasia affects the body </h2><p>The symptoms of CCD vary considerably from one person with CCD to another. This is true even of people in the same family who have CCD. </p><p>CCD is very rare and occurs in one in one million children worldwide. Both boys and girls can have CCD.</p><h3>Bone problems </h3><p>CCD is a disorder of bone development. The various problems of bone development include: </p><ul><li>the spaces between the bones of the skull (fontanelles) take longer than expected to close. In a small percentage of people, the fontanelles may not close completely during their lifetime. </li><li>partly or completely missing collarbones, which can lead to a narrow chest with sloping shoulders </li><li>osteoporosis (lower bone density) </li><li>narrow pelvis and/or abnormal shape of the pelvic bones </li><li>shorter stature (height) </li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Fontanelle_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">A fontanelle is a soft spot between the skull bones on a baby's head. Newborns have several fontanelles that normally close within the first two years of life.</figcaption> </figure> <h3>Dental problems </h3><p>People with CCD lose their primary teeth (baby teeth) and get their secondary teeth (adult teeth) late. This causes overcrowding of teeth and mal-alignment of the jaw.</p><h3>Height and body shape </h3><p>People with CCD can be shorter in height. The final height of boys is about six inches shorter than expected. For girls, the final height is about three inches shorter. </p><p>People with CCD are more likely to have other changes in their bones like: </p><ul><li>short, tapered fingers and broad thumbs </li><li>flat feet </li><li>knocking knees </li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Child_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">A child with partly or completely missing collarbones has the ability to bring their shoulders forward in front of their chest.</figcaption> </figure> <h3>Osteoporosis </h3><p>People with CCD have a higher chance to develop osteoporosis (low bone density). The bone density is measured by a special test called a DEXA scan. </p><h3>Medical problems </h3><p>People with CCD often have recurrent chest, sinus and ear infections. Repeated ear infections may cause hearing loss. </p><h3>Caesarean section </h3><p>Women with CCD are more likely to need a Caesarean section to give birth because they have a narrow pelvis and/or abnormally shaped pelvic bones. </p><h3>Intellectual development </h3><p>People with CCD have normal intelligence. </p><h2>Cleidocranial dysplasia is a genetic condition </h2><p>Genetic means related to genes. Each of us inherits our genes from our parents. Genes provide our bodies with instructions that influence our health, looks and behavior. In general, each person has two copies of every gene. One copy is inherited from the mother and the other from the father. </p><p>The RUNX2 gene helps regulate the development of bone and cartilage. CCD occurs as a result of a mutation (change) in one copy of the RUNX2 gene. </p><ul><li>In most people with CCD, this is a new mutation, meaning neither parent has CCD. </li><li>However, in a small percentage of people with CCD, the mutation is inherited (passed on) from one of the parents. </li></ul><p>CCD is an <a href="https://pie.med.utoronto.ca/htbw/module.html?module=genetics/simplesinglegeneinheritance/autosomaldominantinheritance/pages/default.aspx">autosomal dominant</a> condition. This means that: </p><ul><li>Only one copy of the RUNX2 gene has a mutation in a person with CCD. The other copy of the gene works normally, but this is not enough to prevent a person from having CCD. </li><li>A person with CCD has a 50% chance during each pregnancy of passing this genetic condition on to the child. </li><li>The risk to the sibling (brother or sister) of a person with CCD depends on if the parent has CCD or not. </li></ul> <figure> <span class="asset-image-title">Inheritance of CCD</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Inheritance_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">CCD is caused by a mutation in the RUNX2 gene. Every person has two copies of this gene. A person will have CCD if one copy of the gene has a mutation. In this example, the parent with CCD has one copy of the RUNX2 gene with a mutation and the other has none. If the baby does not inherit the mutation then the baby will not have CCD. If the baby inherits the copy of the gene with a mutation, then the baby will have CCD.</figcaption></figure><h2>Cleidocranial dysplasia can be diagnosed before or after birth </h2> <p>Before birth, CCD can be diagnosed by testing DNA taken from the fetus. This can be obtained in one of the following ways: </p> <ul> <li>by amniocentesis after the 15th week of pregnancy </li> <li>by chorionic villus sampling (CVS) between the 11th and 14th week of pregnancy</li> </ul> <p>These methods are used for high-risk pregnancies, for instance if the parents have another child diagnosed with CCD or one of the parents has CCD. </p> <p>To be eligible for this testing, the mutations in the gene responsible for causing CCD in the family must be known. This means genetic testing (a blood test) must be done on the person in the family with CCD. </p> <p>CCD may be diagnosed before birth using ultrasound to look for features of CCD. However, a normal ultrasound does not guarantee that the baby will not have CCD. </p> <p>After birth, the diagnosis of CCD is based on X-ray findings and physical examination. A diagnosis of CCD can be confirmed by DNA testing of the RUNX2 genes (a blood test).</p><h2>Treatment of cleidocranial dysplasia</h2> <p>Children with CCD can lead fulfilling lives if they receive attentive, informed care from their parents and health-care providers. The treatment is based on the early detection and management of the various symptoms and complications. People with CCD have a normal life expectancy. </p> <h3>Treatment of dental problems </h3> <p>Early referral to a dental clinic familiar with CCD allows for timely planning of necessary procedures. The goal of treatment is to: </p> <ul> <li>improve the appearance of the teeth </li> <li>enhance the ability to chew </li> </ul> <p>This may be achieved by a combination of dental procedures which may include surgery. </p> <h3>Speech therapy </h3> <p>Speech therapy is sometimes needed during the dental treatment process. </p> <h3>Treatment of recurrent infections </h3> <p>Sinus and ear infections need timely treatment with proper medication.</p> <h3>Prevention of head injuries </h3> <p>If your child has large openings between the skull bones (fontanelles), the head should be protected from blunt trauma. Your child should use helmets during high-risk activities such as bicycling, skateboarding and baseball. </p> <h3>Calcium and Vitamin D supplementation </h3> <p>If your child has low bone density (osteoporosis), your child's doctor may suggest calcium and vitamin D supplements to strengthen the bones. Talk to your doctor. </p> <h3>Monitoring of pregnant women </h3> <p>Pregnant women with CCD should be monitored carefully. They may need a Caesarean section for delivery. </p><h2>Patient resources </h2><p>The following organizations and sites can offer more information, support and contact with other affected people and their families. </p><ul><li>Children's Craniofacial Association: <a href="https://www.ccakids.org/">www.ccakids.org</a> </li><li>The National Cranio-facial Association: <a href="http://www.faces-cranio.org/" target="_blank">www.faces-cranio.org</a> </li><li>The Human Growth Foundation: <a href="http://www.hgfound.org/">www.hgfound.org</a> </li><li>MUMS (Mothers United for Moral Support) National Parent-to-Parent Network: <a href="http://www.netnet.net/mums/">www.netnet.net/mums/</a> </li></ul>
Dysplasie cléidocrânienneDDysplasie cléidocrânienneCleidocranial dysplasia (CCD)FrenchGeneticsChild (0-12 years);Teen (13-18 years)Skull;TeethBonesConditions and diseasesCaregivers Adult (19+)NA2012-08-19T04:00:00ZNA8.0000000000000059.00000000000001191.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Les organisations suivantes et leurs sites Web peuvent vous offrir un soutien et plus de renseignements ainsi que vous mettre en contact avec d’autres personnes touchées et leurs familles.</p><h2>En quoi consiste la dysplasie cléidocrânienne?</h2><p>La dysplasie cléidocrânienne est une maladie génétique touchant principalement :</p><ul><li>la formation des os (le crâne et les clavicules en particulier),<br></li><li>la dentition.</li></ul> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Clavical_MED_ILL_FR.png" alt="" /><figcaption class="asset-image-caption">Chez les enfants atteints de dysplasie cléidocrânienne, les clavicules peuvent être partiellement ou entièrement manquantes.</figcaption></figure><h2>À retenir</h2> <ul> <li>La dysplasie cléidocrânienne est une maladie génétique touchant principalement la formation des os (le crâne et les clavicules en particulier) et la dentition.</li> <li>L’équipe de soins de santé des enfants atteints de dysplasie cléidocrânienne doit faire le suivi de leurs symptômes.</li> <li>La consultation génétique peut aider les familles à comprendre la dysplasie cléidocrânienne, les façons de la gérer et les risques que d’autres enfants en soient atteints.</li> <li>Les personnes atteintes de dysplasie cléidocrânienne sont généralement en santé et actives.</li> </ul><h2>Symptômes de la dysplasie cléidocrânienne</h2><p>Les symptômes de la dysplasie cléidocrânienne varient considérablement d’une personne atteinte à l’autre, même chez les membres d’une même famille.</p><p>Il s’agit d’une affection très rare se manifestant chez 1 enfant sur 1 million à l’échelle mondiale. Tant les garçons que les filles peuvent en être atteints.</p><h3>Atteinte osseuse</h3><p>La dysplasie cléidocrânienne est une maladie touchant la formation des os. Des troubles variés sont observés :</p><ul><li>retard de fermeture des os du crâne (fontanelles) : chez un faible pourcentage des personnes, les fontanelles ne se referment pas complètement durant leur vie,</li><li>absence partielle ou totale de clavicules, ce qui peut se traduire par un thorax (poitrine) étroit et des épaules tombantes</li><li>ostéoporose (faible densité osseuse),</li><li>bassin étroit ou forme anormale de ses os,</li><li>petite taille.</li></ul> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Fontanelle_MED_ILL_FR.jpg" alt="" /><figcaption class="asset-image-caption">Une fontanelle est une zone molle située entre les os crâniens (sur le dessus de la tête) des bébés. Les nouveaux-nés ont plusieurs fontanelles. Ces espaces entre les os se referment normalement aux cours des deux premières années de vie.</figcaption> </figure> <h3>Problèmes de dentition<br></h3><p>Chez les personnes atteintes, la perte des dents temporaires (dents de lait) et l’apparition des dents permanentes s’effectuent tardivement, d’où la possibilité de dents surnuméraires et de dissymétrie de la mâchoire.</p><h3>Taille et forme corporelle</h3><p>Les personnes atteintes peuvent être de taille plus petite que la normale. La taille définitive chez les garçons est de 6 pouces de moins que la normale et, chez les filles, de 3 pouces de moins.</p><p>Ces personnes sont aussi plus susceptibles de présenter d’autres anomalies des os donnant lieu, par exemple, à :</p><ul><li>des doigts courts et effilés et des pouces larges,</li><li>des pieds plats,</li><li>des genoux cagneux (tournés vers l’intérieur).</li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Child_MED_ILL_FR.jpg" alt="" /> <figcaption class="asset-image-caption">Un enfant chez qui les clavicules sont partiellement ou entièrement manquantes peut déplacer les épaules jusqu’à l’avant de la poitrine pour qu’elles se touchent.</figcaption> </figure> <h3>Ostéoporose</h3><p>Les personnes atteintes risquent davantage de souffrir d’ostéoporose (faible densité osseuse). On mesure la densité osseuse à l’aide d’un test particulier appelé DEXA.</p><h3>Troubles médicaux </h3><p>Les personnes souffrant de dysplasie cléidocrânienne font souvent des infections à répétition de la poitrine, des sinus et des oreilles. Les infections répétées des oreilles peuvent causer une perte auditive.</p><h3>Césariennes</h3><p>Les femmes atteintes sont plus susceptibles d’avoir à donner naissance par césarienne étant donné que leur bassin est étroit ou que les os de leur bassin ont une forme anormale. </p><h3>Développement intellectuel</h3><p>Les personnes souffrant de dysplasie cléidocrânienne sont dotées d’une intelligence normale.</p><h2>La dysplasie cléidocrânienne est une maladie génétique</h2><p>Le terme « génétique » signifie propre aux gènes. Nous avons tous hérité nos gènes de nos parents. Les gènes donnent à notre organisme des instructions qui influent sur notre santé, notre apparence et notre comportement. En règle générale, chaque personne possède deux copies de chacun de ses gènes. Une copie est transmise par la mère et, l’autre, par le père.</p><p>Le gène RUNX2 contribue à la régulation de la formation des os et du cartilage. La dysplasie cléidocrânienne survient par suite d’une mutation (changement) d’une des copies du gène RUNX2.</p><ul><li>Chez la plupart des gens atteints, il s’agit d’une nouvelle mutation, ce qui veut dire que ni l’un ni l’autre des parents n’en souffre.</li><li>Toutefois, dans un faible pourcentage des cas, la mutation est transmise par l’un des parents.</li></ul><p>La dysplasie cléidocrânienne est une maladie héréditaire à <a href="https://pie.med.utoronto.ca/htbw/module.html?module=genetics/simplesinglegeneinheritance/autosomaldominantinheritance/pages/default.aspx">transmission autosomique dominante</a>. Voici ce que cela signifie: </p><ul><li>Chez une personne atteinte, une seule copie du gène RUNX2 présente une mutation. Le fait que l’autre copie fonctionne normalement ne permet pas de prévenir la dysplasie cléidocrânienne.</li><li>Pour chaque grossesse, le risque que cette personne transmette la maladie à son enfant est de 50%.</li><li>Pour un frère ou une sœur, le risque sera déterminé selon que la maladie est présente ou non chez l’un des parents. </li></ul> <figure><span class="asset-image-title">Transmission de la dysplasie cléidocrânienne</span><img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Inheritance_MED_ILL_FR.jpg" alt="" /><figcaption class="asset-image-caption">La dysplasie cléidocrânienne est causée par une mutation du gène RUNX2. Chaque personne possède deux copies de ce gène. Une personne sera atteinte de dysplasie cléidocrânienne si l’une des copies présente une mutation. Dans cet exemple, chez le parent atteint de la maladie, une copie du gène RUNX2 présente une mutation et l’autre copie est saine. Le bébé ne souffrira pas de dysplasie cléidocrânienne si le gène qui a muté ne lui est pas transmis. Il en souffrira cependant si ce gène lui est transmis.</figcaption></figure><h2>La dysplasie cléidocrânienne peut être diagnostiquée avant ou après la naissance</h2> <p>Avant la naissance, la dysplasie cléidocrânienne peut être diagnostiquée par une analyse de l’ADN du fœtus. On obtient l’ADN de l’une des façons suivantes :</p> <ul> <li>par amniocentèse après la 15e semaine de grossesse,<br></li> <li>par prélèvement des villosités choriales entre les 11e et 14e semaines de grossesse.</li> </ul> <p>Ces méthodes sont utilisées dans le cas des grossesses à risques élevés (par exemple, si les parents ont un autre enfant atteint de dysplasie cléidocrânienne ou si l’un d’entre eux en souffre)./p> </p><p>Pour qu’une personne soit admissible à ces tests, les mutations du gène responsable de la dysplasie cléidocrânienne dans la famille doivent être identifiées. Cela signifie que le membre de la famille ayant la maladie doit faire l’objet d’un test génétique (analyse sanguine). </p> <p>La dysplasie cléidocrânienne peut être diagnostiquée avant la naissance. Une échographie est alors réalisée afin de repérer des traits caractéristiques chez le fœtus. Toutefois, une échographie normale ne peut pas garantir que le bébé ne sera pas atteint de la maladie.</p> <p>Après la naissance, le diagnostic s’effectue au moyen de radiographies et d’un examen physique. On peut le confirmer par une analyse génétique des gènes RUNX2 (analyse sanguine).</p><h2>Traitement de la dysplasie cléidocrânienne</h2> <p> Les enfants atteints de dysplasie cléidocrânienne peuvent mener une vie épanouissante si leurs parents et leurs fournisseurs de soins de santé leur prodiguent des soins attentifs et adaptés. Le traitement se fonde sur la détection et la gestion précoces des divers symptômes et complications. L’espérance de vie des personnes atteintes de dysplasie cléidocrânienne est normale. </p> <h3>Traitement des problèmes dentaires</h3> <p>Une orientation précoce vers un centre dentaire où l’on traite les cas de dysplasie cléidocrânienne permet de planifier en temps opportun les soins nécessaires. Le traitement vise à :</p> <ul> <li>améliorer l’apparence des dents,</li> <li>faciliter la mastication.</li> </ul> <p>Cela peut se faire à l’aide d’une combinaison d’interventions pouvant éventuellement inclure des procédés chirurgicaux.</p> <h3>Orthophonie </h3> <p>La consultation d’un orthophoniste peut être nécessaire durant le traitement dentaire. </p> <h3>Traitement des infections récurrentes</h3> <p>Les infections des sinus et des oreilles doivent être traitées en temps opportun au moyen de médicaments appropriés.</p> <h3>Prévention des traumatismes crâniens</h3> <p>Si votre enfant présente de grands espaces entre les os du crâne (fontanelles), sa tête doit être protégée contre les traumatismes contondants (qui blessent, meurtrissent sans couper ni percer). Il devrait donc porter des casques pendant les activités à risques élevés comme le vélo, la planche à roulettes et le baseball.</p> <h3>Apport complémentaire de calcium et de vitamine D</h3> <p>Si votre enfant présente une faible densité osseuse (ostéoporose), consultez votre médecin. Celui-ci peut recommander la prise de suppléments de calcium et de vitamine D pour renforcer les os. </p> <h3>Suivi des femmes enceintes</h3> <p>Les femmes enceintes atteintes de dysplasie cléidocrânienne requièrent un suivi minutieux. Elles peuvent avoir à donner naissance par césarienne. </p><h2>Ressources à l’intention des personnes atteintes de dysplasie cléidocrânienne</h2> <p>Les organisations suivantes et leurs sites Web peuvent vous offrir un soutien et plus de renseignements ainsi que vous mettre en contact avec d’autres personnes touchées et leurs familles. </p> <ul> <li>Children's Craniofacial Association: <a href="http://www.ccakids.com/" target="_blank">www.ccakids.com</a>(en anglais seulement) </li> <li>The National Cranio-facial Association:<a href="http://www.faces-cranio.org/" target="_blank">www.faces-cranio.org</a>(en anglais seulement) </li> <li>The Human Growth Foundation: <a href="http://www.hgfound.org/" target="_blank">www.hgfound.org</a> (en anglais seulement)</li> <li>MUMS (Mothers United for Moral Support) National Parent-to-Parent Network: <a href="http://www.netnet.net/mums/" target="_blank">www.netnet.net/mums/</a> (en anglais seulement)</li> </ul>

 

 

Cleidocranial dysplasia (CCD)879.000000000000Cleidocranial dysplasia (CCD)Cleidocranial dysplasia (CCD)CEnglishGeneticsChild (0-12 years);Teen (13-18 years)Skull;TeethBonesConditions and diseasesCaregivers Adult (19+)NA2012-08-19T04:00:00ZNA8.0000000000000059.00000000000001191.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Cleidocranial dysplasia is a genetic disorder that affects the development of bones and teeth. Learn what to expect with a diagnosis of CCD.</p><h2>What is cleidocranial dysplasia (CCD)?</h2><p>Cleidocranial dysplasia (say: clie-doh-CRAY-nee-ul diss-PLAY-zee-a) is a genetic condition that mainly affects: </p><ul><li>the development of bones (particularly the skull and collarbones)</li><li>the teeth</li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Clavical_MED_ILL_EN.png" alt="" /> <figcaption class="asset-image-caption">A child with CCD may have partly or completely missing collarbones.</figcaption></figure><h2>Key points</h2> <ul> <li>CCD is a genetic condition that affects the development of bones (particularly the skull and collarbones). It also affects the teeth.</li> <li>Children with CCD need to be followed by their health care team for their symptoms.</li> <li>Genetic counselling can help families understand CCD, the options for managing it and the chances that other children will also be affected.</li> <li>People with CCD generally lead healthy and productive lives.</li> </ul><h2>How cleidocranial dysplasia affects the body </h2><p>The symptoms of CCD vary considerably from one person with CCD to another. This is true even of people in the same family who have CCD. </p><p>CCD is very rare and occurs in one in one million children worldwide. Both boys and girls can have CCD.</p><h3>Bone problems </h3><p>CCD is a disorder of bone development. The various problems of bone development include: </p><ul><li>the spaces between the bones of the skull (fontanelles) take longer than expected to close. In a small percentage of people, the fontanelles may not close completely during their lifetime. </li><li>partly or completely missing collarbones, which can lead to a narrow chest with sloping shoulders </li><li>osteoporosis (lower bone density) </li><li>narrow pelvis and/or abnormal shape of the pelvic bones </li><li>shorter stature (height) </li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Fontanelle_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">A fontanelle is a soft spot between the skull bones on a baby's head. Newborns have several fontanelles that normally close within the first two years of life.</figcaption> </figure> <h3>Dental problems </h3><p>People with CCD lose their primary teeth (baby teeth) and get their secondary teeth (adult teeth) late. This causes overcrowding of teeth and mal-alignment of the jaw.</p><h3>Height and body shape </h3><p>People with CCD can be shorter in height. The final height of boys is about six inches shorter than expected. For girls, the final height is about three inches shorter. </p><p>People with CCD are more likely to have other changes in their bones like: </p><ul><li>short, tapered fingers and broad thumbs </li><li>flat feet </li><li>knocking knees </li></ul> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Child_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">A child with partly or completely missing collarbones has the ability to bring their shoulders forward in front of their chest.</figcaption> </figure> <h3>Osteoporosis </h3><p>People with CCD have a higher chance to develop osteoporosis (low bone density). The bone density is measured by a special test called a DEXA scan. </p><h3>Medical problems </h3><p>People with CCD often have recurrent chest, sinus and ear infections. Repeated ear infections may cause hearing loss. </p><h3>Caesarean section </h3><p>Women with CCD are more likely to need a Caesarean section to give birth because they have a narrow pelvis and/or abnormally shaped pelvic bones. </p><h3>Intellectual development </h3><p>People with CCD have normal intelligence. </p><h2>Cleidocranial dysplasia is a genetic condition </h2><p>Genetic means related to genes. Each of us inherits our genes from our parents. Genes provide our bodies with instructions that influence our health, looks and behavior. In general, each person has two copies of every gene. One copy is inherited from the mother and the other from the father. </p><p>The RUNX2 gene helps regulate the development of bone and cartilage. CCD occurs as a result of a mutation (change) in one copy of the RUNX2 gene. </p><ul><li>In most people with CCD, this is a new mutation, meaning neither parent has CCD. </li><li>However, in a small percentage of people with CCD, the mutation is inherited (passed on) from one of the parents. </li></ul><p>CCD is an <a href="https://pie.med.utoronto.ca/htbw/module.html?module=genetics/simplesinglegeneinheritance/autosomaldominantinheritance/pages/default.aspx">autosomal dominant</a> condition. This means that: </p><ul><li>Only one copy of the RUNX2 gene has a mutation in a person with CCD. The other copy of the gene works normally, but this is not enough to prevent a person from having CCD. </li><li>A person with CCD has a 50% chance during each pregnancy of passing this genetic condition on to the child. </li><li>The risk to the sibling (brother or sister) of a person with CCD depends on if the parent has CCD or not. </li></ul> <figure> <span class="asset-image-title">Inheritance of CCD</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cleidocranial_dysplasia_Inheritance_MED_ILL_EN.jpg" alt="" /> <figcaption class="asset-image-caption">CCD is caused by a mutation in the RUNX2 gene. Every person has two copies of this gene. A person will have CCD if one copy of the gene has a mutation. In this example, the parent with CCD has one copy of the RUNX2 gene with a mutation and the other has none. If the baby does not inherit the mutation then the baby will not have CCD. If the baby inherits the copy of the gene with a mutation, then the baby will have CCD.</figcaption></figure><h2>Cleidocranial dysplasia can be diagnosed before or after birth </h2> <p>Before birth, CCD can be diagnosed by testing DNA taken from the fetus. This can be obtained in one of the following ways: </p> <ul> <li>by amniocentesis after the 15th week of pregnancy </li> <li>by chorionic villus sampling (CVS) between the 11th and 14th week of pregnancy</li> </ul> <p>These methods are used for high-risk pregnancies, for instance if the parents have another child diagnosed with CCD or one of the parents has CCD. </p> <p>To be eligible for this testing, the mutations in the gene responsible for causing CCD in the family must be known. This means genetic testing (a blood test) must be done on the person in the family with CCD. </p> <p>CCD may be diagnosed before birth using ultrasound to look for features of CCD. However, a normal ultrasound does not guarantee that the baby will not have CCD. </p> <p>After birth, the diagnosis of CCD is based on X-ray findings and physical examination. A diagnosis of CCD can be confirmed by DNA testing of the RUNX2 genes (a blood test).</p><h2>Treatment of cleidocranial dysplasia</h2> <p>Children with CCD can lead fulfilling lives if they receive attentive, informed care from their parents and health-care providers. The treatment is based on the early detection and management of the various symptoms and complications. People with CCD have a normal life expectancy. </p> <h3>Treatment of dental problems </h3> <p>Early referral to a dental clinic familiar with CCD allows for timely planning of necessary procedures. The goal of treatment is to: </p> <ul> <li>improve the appearance of the teeth </li> <li>enhance the ability to chew </li> </ul> <p>This may be achieved by a combination of dental procedures which may include surgery. </p> <h3>Speech therapy </h3> <p>Speech therapy is sometimes needed during the dental treatment process. </p> <h3>Treatment of recurrent infections </h3> <p>Sinus and ear infections need timely treatment with proper medication.</p> <h3>Prevention of head injuries </h3> <p>If your child has large openings between the skull bones (fontanelles), the head should be protected from blunt trauma. Your child should use helmets during high-risk activities such as bicycling, skateboarding and baseball. </p> <h3>Calcium and Vitamin D supplementation </h3> <p>If your child has low bone density (osteoporosis), your child's doctor may suggest calcium and vitamin D supplements to strengthen the bones. Talk to your doctor. </p> <h3>Monitoring of pregnant women </h3> <p>Pregnant women with CCD should be monitored carefully. They may need a Caesarean section for delivery. </p><h2>Coping with cleidocranial dysplasia</h2> <p>Most people with CCD lead healthy and active lives. In general, children with visible differences like short stature can have difficulties in school and society. Encourage your child to participate in activities with other children the same age. As well, try to physically adapt your child's surroundings to support your child and encourage independence. Speak to your health care team if you need help or advice or if you are having trouble coping. </p><h2>Genetic counselling for cleidocranial dysplasia</h2> <p>People with CCD and their families should consider assessment by a geneticist and genetic counsellor. They can help with the following: </p> <ul> <li>confirming the diagnosis </li> <li>discussing the natural history of the disease </li> <li>evaluating the risk that future children will also be affected </li> <li>discussing available options for managing the disease </li> </ul><h2>Patient resources </h2><p>The following organizations and sites can offer more information, support and contact with other affected people and their families. </p><ul><li>Children's Craniofacial Association: <a href="https://www.ccakids.org/">www.ccakids.org</a> </li><li>The National Cranio-facial Association: <a href="http://www.faces-cranio.org/" target="_blank">www.faces-cranio.org</a> </li><li>The Human Growth Foundation: <a href="http://www.hgfound.org/">www.hgfound.org</a> </li><li>MUMS (Mothers United for Moral Support) National Parent-to-Parent Network: <a href="http://www.netnet.net/mums/">www.netnet.net/mums/</a> </li></ul>Cleidocranial dysplasia (CCD)

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