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Which are the symptoms of Cleidocranial Dysplasia?

See the worst symptoms of affected by Cleidocranial Dysplasia here

Cleidocranial Dysplasia symptoms

Symptoms of Cleidocranial Dysplasia


Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is characterized by abnormalities in the collarbones, skull, and dentition. Individuals with CCD may exhibit a range of symptoms, which can vary in severity from mild to severe. Here are some of the common symptoms associated with Cleidocranial Dysplasia:



Delayed Closure of Fontanelles


One of the key features of CCD is the delayed closure of the fontanelles, which are the soft spots on a baby's skull. In individuals with CCD, these fontanelles may take longer to close than in typical development. This delayed closure can be observed during infancy and childhood.



Abnormal Skull Development


CCD can cause various abnormalities in the development of the skull. The most noticeable is the presence of open skull sutures, which are the fibrous joints between the bones of the skull. These open sutures can lead to a larger head size and a characteristic appearance known as "bossing" or frontal prominence. Additionally, individuals with CCD may have a high, prominent forehead and a flattened bridge of the nose.



Underdeveloped or Absent Collarbones


Another prominent feature of CCD is the underdevelopment or absence of collarbones, medically known as clavicles. This can result in increased shoulder mobility, allowing affected individuals to bring their shoulders closer together or even touch them in front of their bodies. The absence or abnormal development of collarbones can be easily observed through physical examination.



Dental Abnormalities


CCD often affects the development of teeth, leading to various dental abnormalities. These may include delayed eruption of permanent teeth, retained primary (baby) teeth, and supernumerary teeth (extra teeth). The presence of supernumerary teeth, particularly in the upper jaw, is a characteristic feature of CCD. Additionally, individuals with CCD may have a high arched palate and crowded teeth.



Short Stature


Some individuals with CCD may experience a delay in growth, resulting in shorter stature compared to their peers. However, it's important to note that the degree of short stature can vary widely among affected individuals.



Other Possible Symptoms


In addition to the aforementioned primary symptoms, individuals with CCD may also exhibit other less common features. These can include hearing loss, recurrent ear infections, spinal abnormalities (such as scoliosis), and joint hypermobility. However, it's important to remember that the presence and severity of these additional symptoms can vary from person to person.



If you suspect that you or your child may have Cleidocranial Dysplasia, it is crucial to consult with a healthcare professional or a geneticist for a proper diagnosis. They can evaluate the symptoms, perform genetic testing if necessary, and provide appropriate management and support.


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3 answers
I find that the scoliosis and missing teeth/having surgeries are some of the hardest parts of having Cleidocranial Dysplasia. I wish I didn't have back pain, but for the most part, mine isn't really that bad.

Posted May 16, 2017 by Paige 600
Translated from spanish Improve translation
People with cleidocranial dysostosis have a forehead and jaw are prominent and the area of half of the nose (nasal bridge) is wide.

The bones of the clavicle may be absent or have an abnormal development. This makes the shoulders together in front of body.

The primary teeth do not fall off at the expected time. The permanent teeth may develop later than normal and an additional series of these teeth grows inward. This causes the normal teeth are crooked.

The disease does not affect the intelligence of the patient.

Other symptoms may include:

Ability to gather both shoulders in front of body
Delay in the closure of the fontanelles ("soft spots")
Joints loose
Prominent forehead (bossing front)
Forearms shorts
Fingers of the hand short
Cleidocranial dysplasia (CHD) is a rare genetic disorder of bone growth characterized by clavicles hipoplásicas or aplásicas, persistence of fontanelles and sutures open, and multiple dental abnormalities.

Posted May 17, 2017 by Sonia 1370

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Stories of Cleidocranial Dysplasia

CLEIDOCRANIAL DYSPLASIA STORIES
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I was diagnosed before I was born. My mother and my grandmother both have Cleidocranial Dyplasia. I have only met one other person outside of my family that had Cleidocranial dysphasia. I am 22 years old and haven't had a single needed surgery becaus...
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I was born with cleidocranial dysplasia. It is a congenital disorder primarily affecting the bones and teeth. I had multiple mouth surgeries through childhood. It's been said I had the sharks equivalent of teeth. I am 30 and due to funds I am still n...
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  IN MY SCHOOL MAKE ME BULLYNG AND I GIVE PENALTY
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I am a spontaneous occurrence.
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I was born and raised in Colorado. I got diagnosed with CCD at a very young age. I don't have collar bones at all, had 3 different surgeries for my baby teeth to be removed and my adult teeth to come in. I had braces for 5-6 years to aid the process....

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