What is Cleidocranial Dysplasia? The Rare Genetic Disorder That Stranger Things' Dustin Suffers From

Netflix’s one of the most successful series, Stranger Things, has just dropped the first four episodes of season five, and fans are thrilled. While all the characters have their devoted personal fan base, Dustin Henderson often tops the list when it comes to having the best sense of humour, a science bug attitude, a unique personality, and the ability to take trolls on the chin. If you are a Dustin fan or not, you must have noticed him getting teased as 'toothless' and for having 'no collarbones'. However, Dustin's physical appearance is due to a rare genetic disorder called Cleidocranial Dysplasia (CCD).

Did you know that Gaten Matarazzo, the on-screen star who plays Dustin, has this one-in-a-million disease in real life as well and has talked about it openly many times? To take a closer look at this disease, we spoke to Dr Harsha G N, Senior Consultant - Orthopaedics, Aster Whitefield Hospital, Bengaluru. Read ahead to understand in detail:

What Is Cleidocranial Dysplasia?

Cleidocranial Dysplasia (CCD) is a rare inherited condition that affects the growth of bones and teeth, affecting each individual differently. According to a report by the Cleveland Clinic, people living with this condition may have distinct physical characteristics such as an underdeveloped collarbone, short stature, and a delay in tooth development.

Speaking to the Onlymyhealth editorial team, Dr Harsha G N explained, “It is a disorder that is evident from infancy and is recognised for contributing to the lack of collarbones that are partially formed or completely missing, delayed skull bone closure, and major dental abnormalities.”

Dr Harsha further highlighted that it is capable of changing physical appearance and bone structure. With proper medical and dental care, most people with CCD can still live a long and healthy life.

What Causes Cleidocranial Dysplasia?

The single most significant reason for the development of CCD is a defect in the RUNX2 gene that is very instrumental in the formation of bones and teeth. Dr Harsha mentioned, “The disorder may be passed from a parent to a child through an autosomal dominant pattern or result from a fresh (spontaneous) mutation; hence, a child may be the carrier of the mutated gene even when there is no history of the disorder in the family.”

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Living With Cleidocranial Dysplasia

CCD is such a rare condition that occurs once in millions of births, and its symptoms vary from person to person, from mild to severe. However, with the right care and treatment, it does not affect your intelligence and cognitive development, allowing you to live a life full of choices. Here are a few symptoms of how living with Cleidocranial Dysplasia affects the body, as shared by Dr Harsha:

Collarbones (Clavicles)

One of the most significant signs of CCD is the incomplete development or lack of collarbones. Dr Harsha shared that because of the condition, affected people can typically move their arms to such an extent that they can bring their shoulders unusually close together or even in front of their chest and touch them. The shoulder outline may look narrow or sloped.

Skull and Facial Bones

The soft spots (fontanelles) on the skull may take much longer to close, sometimes even remaining open until childhood or adulthood. “A large forehead can be seen, and the midface may look underdeveloped, making the facial profile of the individual typical, which can even lead to trolling or abuse in childhood,” Dr Harsha stated.

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Dental Problems

Among the symptoms, dental abnormalities are the hardest ones to tackle. Delayed shedding of baby teeth and delayed eruption of permanent teeth may be some of the problems that children face. Sharing the most common problem of supernumerary teeth, Dr Harsha said, “This can be the cause of crowding, misalignment, and difficulty chewing. These dental matters are usually difficult to manage and require orthodontics and surgery for a long period.”

Skeletal Issues and Other Problems

Besides, short stature, scoliosis, broad and short thumbs, flat feet, and loose joints are some of the symptoms that can be manifested by people with CCD. Some of them may also have hearing loss resulting from ear bone malformation. Respiratory problems that arise due to changes in the shape of the chest are very rare.

Diagnosis

Diagnosis most of the time starts with a doctor’s examination, mainly when visible signs such as the absence of collarbones or delayed skull closing are clearly noticeable. Dr Harsha shared a few techniques that help diagnose Cleidocranial Dysplasia:

• X-rays are the first and most crucial step in unveiling the typical differences in the skeleton.
• The identification of a mutation in the RUNX2 gene through genetic testing can help in knowing the inheritance pattern and in guiding future family planning.
• A dental X-ray is also a way to promptly detect extra or impacted teeth.

Management And Treatment Of Cleidocranial Dysplasia

Below are a few management tips for Cleidocranial Dysplasia recommended by Dr Harsha:

Orthopaedic Care

As shared by Dr Harsha, the main focus of treatment should be on the different issues of the bones that come with the disorder, as the disease can not be cured. “In certain cases, the spine, the shoulder, or the chest may require orthopaedic interventions because of unstable conditions or deformities caused by the disorder,” he noted. The majority of patients do not require a major surgical operation as they can adjust well to the condition.

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Dental and Orthodontic Management

“In most cases, dental treatment requires a long period and may be complicated with the extraction of supernumerary teeth, orthodontics for alignment, and, in some cases, jaw surgery,” the orthopaedics specialist explained. The outcome of the function and the appearance can be improved greatly by early consultation with an expert dental panel.

Hearing and Respiratory Support

A hearing test is also a prompt way to detect and manage the early symptoms, as CCD may also cause conductive hearing loss. “Although rare, respiratory problems may be difficult to deal with; thus, early infancy must be particularly watched for symptoms of such problems that may arise during this period," Dr Harsha stated.

Growth and Development Support

Careful observation of the growth, posture, and joint mobility plays an important role in having the possibility of early intervention for any skeletal-related symptoms. Physiotherapy can be a good option to provide support to the body and enhance movement skills.

Bottomline

Gaten Matarazzo’s character as Dustin in Stranger Things has shown how disabilities and physical appearance matter nothing, and how your characteristics should take the front seat in the journey of your life. Throughout the seasons, Dustin deals with the trolls with his quirky sense of humour. The character of Dustin and Gaten himself in life is a great example that people with Cleidocranial Dysplasia can have great life experiences.