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:
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.
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.
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.
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.
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.
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.