What Is Cleidocranial Dysplasia?

Cleidocranial dysostosis is another name of cleidocranial dysplasia. It is a birth defect which mainly effects bones and teeth of the new born. As the name indicates, cleido means collar bone and cranial means head. Dysplasia is the abnormal development of collar bone and head. The collar bone may be abnormally developed or absent. Due to this abnormal development of collar bone, the shoulders looks like closer to each other. It effects the development of head too.

So the front of the cranium may not be properly developed until later and sometimes the size of cranium is shorter then average. Its appearance can be diagnosed easily because of the wide set eyes, wide forehead, a flat nose and abnormal teeth appearance. These symptoms are all physical symptoms. Cleidocranial dysplasia does not effect intelligence of the new born. Other than cleidocranial dysostosis, the synonyms of cleidocranial dysplasia are mutational dysostosis and Marie sainton syndrome.

Cleidocranial dysplasia may transfer from parents to their offsprings during pregnancy. Other than inheritance of this dysplasia, it may appear as a new mutation. It is inherited in an autosomal dominant manner. A specific Gene named RUNX2 is involved in this mutation. This Gene is an important Gene in bone formation.

The appearance of cleidocranial dysplasia resembles to various other medical conditions, so genetic testing makes it separate from other medical conditions. Even x-rays can not confirm its presence. There are many other medical conditions which have similar symptoms. These medical conditions include mandibuloacral dysplasia, hajdu Cheney syndrome, pyknodysostosis and osteogenesis imperfecta.

The diagnosis is an important part of every treatment. Without exact diagnosis, no one can prescribe a good treatment plan for patient. So there are different tests which are performed to confirm the presence of cleidocranial dysplasia. During pregnancy, the size of the clavicle bone is measured for the diagnosis of cleidocranial dysplasia. If the size is shorter than normal, then it is a sign of presence of cleidocranial dysplasia.

It usually occur as a result of family history with cleidocranial dysplasia. To avoid this dysplasia, people should avoid inter family marriages. As it is a birth defect, so supportive treatment is preferred. A device is used to fix skull deformity and protect cranium. It also protects teeth deformity.

It is not a fatal condition. The life expectancy after birth of infants with cleidocranial dysplasia is normal. It is a rare condition and effects about one in a million population. There is no gender discrimination in this dysplasia. It occurs evenly in both men and women.

Up till now approximately 1000 cases are reported with cleidocranial dysplasia. Teeth are mostly effected in cleidocranial dysplasia, so dental care is an important part of treatment. The abnormal bone structure of upper body leads to various problems in routine activities. Children with this dysplasia learn to walk and talk late than normal children. It is because of their bone structure. It's difficult for them to cope with such structure but it does not effect their intelligence.

Cleidocranial Dysplasia Symptoms

Cleidocranial dysplasia is all about the deformity of bones and teeth. As it's name indicates deformity in collar bone and cranium. Cranium is the skull of head which provides protection and structure to the head. So its symptoms are all related to bones and teeth.

Children with cleidocranial dysplasia experience no pain and mild swelling in the clavicle bone. It appears at the age of 3 to 4 years. The most common features of cleidocranial dysplasia are; Clavicle bone may be partial missing and leaves only the medial part of bone. In some cases, the collar bone may be totally missing. And 10% of cases are reported with totally missed clavicle bone. When the size of clavicle bone is smaller than average, then it leads to hypermobility of shoulders. Shoulders may move freely. Even both soulders can be touched easily with opposite hands at a time. In about 80 % of cases, the defect is bilateral.

Partial collar bone presence may leads to symptoms of nerve damage. In this case, the collar bone is preferred to be removed. The hypoplasia of maxilla and other bones of face occurs and leads to prognathic mandible. A soft spot area can be observed by touching in the top of the head. The point of head where bones failed to join and leaves a soft part. Sometimes these bones fuse late.
The joints and bones of the body are under developed and are shorter in size. The size of the frame is small as compare to the normal children and is easy to move around.

Other than these symptoms, there may be under developed jaw. The permanent teeth are called supernumerary teeth. These teeth leads to crowding of adult teeth unless these are removed. Sometimes it becomes necessary to remove supernumerary teeth from jaw line to make space for the adult teeth. There are almost 13 supernumerary teeth are observed. These teeth may be displaced.

  • Wide forehead 
  • The fontanelle are large in size and there are open skull sutures. 
  • Hyper telorism. 
  • Permanent teeth are failed to errupt. 
  • It may also effect the structure of fingers. Fingers may be short and wide. The mid phalanges are shorter than normal. 
  • Wide symphysis. 
  • Abnormalities of vertebral column. 
  • Irritation of the brachial plexus occurs in some of the cases. 
  • Some conditions like scoliosis, syringomyelia and Spina bifida hasalso been described. 
  • There may be limitation in movement and abnormal gait of the body due to structural deformity. 
  • The ossification of bones is delayed and may leads to symphysis pubis. 
  • Other than these obvious symptoms, there are some rare symptoms like normal formation of the structure of ear. Child may experience hearing loss. Hemivertebrae which means half vertebral column. Rinbs and spondolysis may also occur. Hypoplasia may occur of iliac bones. The scapula may be high in some cases and it may also be small. There may be no or short fibular bones. Likewise, there may be no or short radial bones. 
  • Thus, all of the above mentioned symptoms are related to the structure of body. 

Cleidocranial Dysplasia Causes

Cleidocranial dysplasia is all about bone deformity. The bones which are mainly involved in this dysplasia are clavicle bone and cranium. Cleidocranial dysplasia mainly effects the upper structure of the body. In occurs in new born children. There are two main causes behind it's occurrence. 1st one is, it may occur due to Gene mutation during development of fetus and the 2nd cause is, it may occur as a new mutation in the new born child.

So if the family has a history with cleidocranial dysplasia, then there are chances that the new born baby of the family may suffer from this deformity. It is a rare disease and the life expectancy is also normal. The appearance of the body is affected.

It is inherited to the infant during pregnancy as an autosomal dominant trait. But in some of the cases, the exact cause behind cleidocranial dysplasia is not known. There is a specific Gene named RUNX2 which is also known as CBFA1 is involved in this mutation. This Gene is located on the chromosome no. 6 specifically on the shorter arm. This gene is responsible for the transcriptiom process of osteoblast differentiation.

Due to mutation in this gene, the functions are delayed. As a result there is late ossification of the midline structure of body. It can specially be seen in membranous bone. All this occur during the development of the fetus in pregnancy. The pregnant lady comes to know about it during sonography of the fetus. If the measured shoulder length is smaller than usual, then there are chances of cleidocranial dysplasia.

There is another article, in which a Gene named CBFA1 is involved in mutation and considered a cause of cleidocranial dysplasia. This gene is responsible for core binding factor activity 1. The defect in this gene can be observed on the shorter arm of chormosome no. 6p21.

CBFA1 gene is specified for the differentiation of stem cells in to the osteoblasts. When any kind of defect occurs in this gene, it leads to endochondral and membranous bone formation.
According to the defect in this specific Gene, the symptoms appear in a wide range with variable expressions. Dominant genetic trait of disease appears as a result of single copy of the abnormal gene. There is not any gender preference. It can occur in both men and women. There are 50% chances of transfer of cleidocranial dysplasia in infants from parents.

Details about the sex chromosomes of body include X and Y chromosomes from male joins with 2 X chromosomes of female. Now every chromosome has a short Arm named as "p" and a long arm named as "q". There are further bands on each arm of the chromosome. The position of Gene can be defined according to the band of the shorter arm of chromosome.

Up till now almost 1000 of cases are reported. And among them 50% of cases were occurred as a result of inheritance of such dominant trait. Remaining 50% of cases were reported with as a new mutation of the gene mentioned above.

Cleidocranial Dysplasia Treatment

Cleidocranial dysplasia ocurs during pregnancy. It is all about the deformed structure of the body. As it is an I herited disease and a birth defect, so no medication can treat it. Bones and teeth can only be treated with supportive therapies.

If the deformity of cranium and clavicle bone is severe, then surgical correction of the bone is necessary to avoid further worsening of deformity. In case of dysplasia of conceiving mother, cesarian is recommended for delivery of baby. There are different surgeries to correct different parts of body having bone deformity. Like the following surgeries.

Cranium and facial deformity can be treated via surgical procedure which is named as craniofacial surgery. In this surgery, the structure of the cranium and face is corrected like miss arrangement of jaw line, teeth and eyes etc. This surgical procedure is specially designed to treat congenital diseases. It correct the deformities of jaw, neck, face, head and other associated structures. The bones are manipulated and it is not specific to tissues.

Coxa Vera can be treated with corrective femoral osteotomies. If it left untreated, then later it may lead to arthritis. So treatment is necessary. In case of brachial plexus, patient may experience pain and irritation and numbness in the specific area. Pain killers can be prescribed to relief pain and irritation.
The excision of fragments of clavicle bone can be performed as it will decompress the brachial plexus. This decompression will ultimately treat pain and irritation of brachial plexus.

Open fontanelle is a main symptom of cleidocranial dysplasia. To treat this deformed skull, a head gear is used. The head gear should be appropriate and according to the size of head. This head gear helps to protect head from external environment and injuries. Head gear are used to join the apart fontanelle.

Miss arrangement of jaw line is another important symptom of cleidocranial dysplasia. For that purpose, proper dental care is required. If there is diagnosed any cleft palate, then surgery should be performed to treat this. Through this surgery, the opening will be closed or blocked.
If there is a doubt about hearing loss of new born, then hearing evaluations are performed to check the activity of ears.

The above mentioned conditions and treatment were obvious in this dysplasia. It further leads to different medical conditions like sinus infections, sleep apnea and ear infections. All these conditions occur due to late development of craniofacial features.

Children with cleidocranial dysplasia may have some speech and language problems. So a speech pathologist should check the child about his speech and language activity. Counseling is an important part of the treatment. Counseling makes the will power stronger. A physician or pharmacist should counsil the families and parents about this genetics thing.

All the above mentioned treatments are supportive and symptomatic treatments. Close Monitoring is required to check the development of the bones and teeth of the children. It is still under investigation to find out more appropriate treatment plans for cleidocranial dysplasia.

Cleidocranial Dysplasia Teeth

Cleidocranial dysplasia which is also known as cleidocranial dysostosis is the birth defect related to bones and teeth. Along with small or abnormal collar bones, the new born have abnormal teeth arrangement. As it is a birth defect and develops during the development of fetus within the womb of mother, so the teeth are abnormal when they 1st grow up. A specific Gene is involved in the mutation, which is responsible for this abnormality. This gene is RUNX2 gene. The mandible jaw is not aligned and is prognathic. Prognathism is the positional placement of mandible according to maxilla.

The mandibular jaw line may position far ahead from maxillary jaw line with abnormal placement and growth of teeth. The teeth are not properly grown. The jaw line protrudes ahead from the original jaw line in case of cleidocranial dysplasia. There is a specific difference between the teeth. The teeth are not aligned and are broken and deshaped. In cleidocranial dysplasia the new born may suffer from mandibular hypoplasia. In this condition the mandibular jaw line is not properly developed. The teeth looks distorted and rough.

The overall appearance of face is not attractive. Due to mandibular hypoplasia, infant and his mother may find problem during feeding. In case of emergency or any injury, the intubation becomes difficult in both the cases i.e. in infants and in adults. There is a problem regarding development of permanent teeth. Children with cleidocranial dysplasia may does not develop permanent teeth. Children most probably develop supernumerary teeth. Supernumerary teeth are the additional teeth which grows above the original jaw line.

This condition is also termed as hyperdontia. There is another condition named hypodontia which is right opposite to the hyperdontia. In hypodontia, there is a lack of teeth (original teeth). So supernumerary teeth are removed to make space for the adult teeth to grow. The no. Of supernumerary teeth observed is 13. 13 is the average count of supernumerary teeth it may vary. In cleidocranial dysplasia, the supernumerary teeth may be replaced by adult teeth, but still there may be deficient cementum formation. Sometimes even after removal of supernumerary teeth, the child does not develop permanent teeth.

The abnormality is all about the positioning of teeth And overall appearance of the jaws but he does not find any problem regarding language, speaking and talking. Same in the case of brain, they may have underdeveloped or abnormally developed head, but their thinking power and understanding power is good. They can think and talk normally. As it is a genetic disease, so it cannot be cured pemanently. There are various surgeries to correct the alignment of jaws and teeth. The surgical correction protects the patient from worsening of the deformity.

During surgery, the supernumerary teeth are removed and made a space for the development of adult teeth. All the surgeries regarding cleidocranial dysplasia are performed at the age of 5 years. Not before 5 years because the child is not strong enough for the surgeries.

Cleidocranial Dysplasia Life Expectancy

Cleidocranial dysplasia is a rare disease and occurs in almost one child per I million children. It is not a fatal condition. It can be treated and managed in a good way. Surgeries are performed to treat the bone and teeth deformity. The life expectancy of children with cleidocranial dysplasia is normal. Children with cleidocranial dysplasia survive like average people children but they need some extra care and attention in order to cope with their deformed structure.

The life expectancy also depends upon the care and attention of parents. Parents have to keep an eye on their children so they can grow in a better way. Parents have to teach their children about how to move and walk and talk properly. These children require special care from both health care providers and parents. Children may lead a healthy and fulfilling life if parents support them in any way.

Early diagnosis of cleidocranial dysplasia is important. Late diagnosis may lead to further problems and ultimately the new born my die. In most of the cases, cleidocranial dysplasia is diagnosed within the womb of mother. Sonography is performed to check the normal development of baby. The size of shoulder is measured and assessed as if it is normal or shorter in size. If the size of the shoulder is smaller than average, then it is due to cleidocranial dysplasia.

Cleidocranial dysplasia has the symptoms which resembles with the symptoms of many other conditions like mandibuloacral dysplasia, pyknodysostosis, ostogenesis imperfecta and hajdu Cheney syndrome. So diagnosis should be accurate. X-rays and other tests may confuse the diagnosis and leads to mismanagement of cleidocranial dysplasia. As a result the life expectancy is reduced. The new born may die due to mismanagement.

As it leads to various medical conditions like sinus infections, ear infections and sleep apnea so, management of these medical conditions is also necessary. If there is sinus infection, then life expectancy may go lower due to no proper treatment or management. If these conditions are left untreated, then it may get worse. Early management leads to improved life expectancy rate. If there is delay in management of cleidocranial dysplasia, then the chances of life expectancy become less.

People with cleidocranial dysplasia have normal life expectancy. The survival rate also depends on the immunity and will power of child. There is no proper or specific treatment for cleidocranial dysplasia so management is important. Without management of symptoms and structure of body, it becomes difficult for child to cope with these deformities. Management is all dependent on the symptoms of an individual. In most of the cases, patient requires keen dental care for the management of teeth and jaws. Dental abnormalities are the part of symptoms of cleidocranial dysplasia.

It takes years for children to be familiar with such structural deformities. Proper speech therapies are conducted to check the speech and language of children suffering from cleidocranial dysplasia. Till now no case is reported with the death of the child.

Cleidocranial Dysplasia Stranger Things

A stranger thing is the name of a movie. In this movie an actor named “Gaten Matarazzo” worked as a child suffering from cleidocranial dysplasia. Gaten Matarzzo personally gave interview about cleidocranial dysplasia. In cleidocranial dysplasia, children suffer from abnormal or deformed structure. Especially collar bone and skull get affected in this dysplasia. Gaten Matarazzo explained his experience about cleidocranial dysplasia.

He said “I wish people would come to know about this rare dysplasia”. He also said “people should change their mentality that having teeth is important because it affects the health of person”. Teeth normally grow in a smooth way, but if teeth are not growing properly, then patient should worry about it. He should not wait longer for them to grow on their own. He further said “doctors should understand this is all about time. As time passes, the condition becomes severe.”

Further on in his interview, he told everyone about his experience being a child suffering from cleidocranial dysplasia. He presented cleidocranial dysplasia in a mild way in this movie and he said his experience went good, honestly. This opportunity helped him in many ways. He learned a lot about cleidocranial dysplasia. He was not teased or bullied by friends or other people. “Stranger things” movie helped him to start his acting career.

He became so confident to talk about cleidocranial dysplasia and does not feel ashamed over it. He said he is thankful to GOD, that he has mild cleidocranial dysplasia. Gaten Matarazzo lives like a normal kid. He considers himself lucky because he has mild cleidocranial dysplasia.

This movie was a good platform to work and start a new exciting acting career. He was selected because of his condition. Short height and teeth makes him younger looking. He said we will not be selected for any normal person role in future. But he can be selected as a person with disabilities. “The duffer brothers” also helped him a lot in maintaining his career.

In this movie, he acted as a person suffering from cleidocranial dysplasia.  Actually the director of the film “the duffer brothers” was not intended to show his character with cleidocranial dysplasia, but when Gaten Matarazzo told them about his condition, they appreciated it. So he worked in this movie as a character suffering from cleidocranial dysplasia.

He found the platform of acting in media industry very useful to make people more knowledgeable about cleidocranial dysplasia. It is a rare dysplasia and usually people do not know about it. Gaten Matarazzo is trying his best to explain his condition to people via media industry. Gaten Matarazzo has miss aligned teeth in real. The teeth are not properly grown and looks smaller than average.

Overall by his appearance no one can judge that he is suffering from cleidocranial dysplasia because he looks normal.  When he smiles, his teeth are smaller and are not aligned, this looks bad. He explained about his condition in movie and declared his teeth as “fake teeth”.

Milly Shapiro Cleidocranial Dysplasia

Milly shapiro is an actress in a well-known movie “hereditary”. It is a horror movie which was released in 2018. It is a sci-fi film in which Milly Shapiro worked as a suspected child. Her performance was instantly iconic and eye catching. She became a star through this movie. In hereditary, she worked as a child suffering from cleidocranial dysplasia.

In an interview with Milly Shapiro, she told about her career. She started working as an actress in Matilda movie. She performed her character as Matilda. Later on, she got success in this movie. She acted in this movie by heart and won an Oscar for that. After a great success in Matilda, she got another main project named “hereditary”. She worked in hereditary as a little girl who is obsessed and involved in inheriting such evil to new born. It is a thriller movie.

Milly Shapiro is an actress who played a main role in hereditary movie. She suffers from cleidocranial dysplasia. Besides this disease, she worked in this movie. Like Galen Matarazzo she also has mild cleidocranial dysplasia. She has small irregular teeth. Apparently she looks good as if she is not suffering from any medical condition. At first, she found it difficult and awkward to act like an obsessed child. But when she took notice about the characters of other members, she got amazed.
She said she had a cool experience.

She set an example for other children suffering from cleidocranial dysplasia, that no condition or disease can stop them from anything. Children with cleidocranial dysplasia are able to do anything they want. This condition is all about the appearance while the intelligence of such children is perfect. Children easily cope with their structural deformity. She did not show up her disease in the movie. That’s why many people criticized her for her acting and try to degrade her.

When people come to know about her medical condition, they appreciated her a lot. She covered up her disease in this film and it helped her lot to cope with this in real life too. She set a great example for other children who are disappointed about their disease. She brought awareness about this disease through her acting. Her sister helped her a lot during her struggle of acting. She said her sister is her strength. She managed her role properly. The only shot which she found difficult was pigeon handling because she found it bad to hurt an animal or bird than a human being.

With the success in hereditary movie, she moved on to her new project i.e. a TV show named “splitting up together”. now days she is finding some new exciting platform to work. She is a role model for everyone. She is a hope that nothing can beat you until you accept your failure. The interviewer found her interesting and determined to do something special in life. This was all about the story of Milly Shapiro as “Charlie” in hereditary.

Gaten Matarazzo Cleidocranial Dysplasia

Gaten matarazzo is a child actor who worked in a Hollywood movie named "stranger things". Gaten matarazzo worked as "Dustin" in this movie. Gaten matarazzo is not an ordinary star child but he suffer from a medical condition I.e. cleidocranial dysplasia. Cleidocranial dysplasia is a condition in which children have abnormally developed collarbone or no collarbone. Abnormally developed teeth and head.

The overall appearance of gaten matarazzo is good. His dis alignment of teeth and hypodontia clearly shows that he is suffering from cleidocranial dysplasia. He has no collarbone.
His acting in the movie is just beyond expectations. His work in the movie is appreciable. He wore fake teeth in the movie and he proudly revealed the fact about his fake teeth in an interview. He also talked about children with cleidocranial dysplasia. He appreciated them as they are fighting with their inborn disease.

He said " I wish people could understand the importance of having teeth. It is not cosmetic but it has a great effect on the health and well being of a person. Teeth will not grow on their own and it is not about waiting for them to grow. Too much waiting for the teeth may complicate the situation. The teeth may fuse into the jaw line and does not appear. Long term waiting for teeth development results in to this and then patient have to get an implant for the teeth because original teeth are not gonna develop normally.

Gaten matarazzo also said that doctors should understand about the surgeries. He said teeth implants should be performed via appliances and medical procedures. Gaten matarazzo told about his disease proudly in the interview and also explained his experience working with cleidocranial dysplasia in the movie.

He said his experience was pretty good working in the movie. He is suffering from mild cleidocranial dysplasia so it does not caused him to be bullied by anyone. He said he is lucky to have cleidocranial dysplasia, as his disease made him famous and helped him started his carreer. It was all because of his disease that he found an opportunity to work in a movie.

He proudly talk about it and was not ashamed at all. He can do the same things that other children do (with cleidocranial dysplasia). As he is suffering from mild cleidocranial dysplasia, so his symptoms are also less. He lives like a normal child. He consider himself lucky because he has mild cleidocranial dysplasia.

It's his height and his teeth which makes him look younger. He can play different roles in the movie, even the parts where normal child acting is required. He can act like a normal child in the movies. He also worked in a movie named duffer brothers. But he worked as an abnormal child because the director of the movie find it interesting to present the condition of gaten matarazzo on screen. The idea of showing disability of gaten matarazzo in the movie worked a lot and the movie got a hit.