As of 2017, the overall prevalence of Ehlers-Danlos syndrome, collectively, has been estimated to be between 1 in 5,000-10,000. The prevalence of the kyphoscoliotic type is unknown. The disorder is very rare and has been estimated to occur in 1 in 100,000 live births.
As of 2017, researchers are not sure about whether there are high-risk populations for this disorder. Many of the cases reported in the medical literature have occurred in Turkey, Greece, and the Middle East.
As of 2017, the carrier frequency of Ehlers-Danlos syndrome, kyphoscoliotic type is 1 in 150 people.
Frequently Asked Questions About Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
Why does kyphoscoliotic Ehlers-Danlos syndrome cause scoliosis?
Kyphoscoliotic Ehlers-Danlos syndrome is caused by different changes (or mutations) in the PLOD1 gene. PLOD1 helps to process a protein called collagen. Collagen is one of the major components in connective tissue. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin strength and elasticity. It also helps make bones strong and sturdy. People with mutations in the PLOD1 gene have collagen that doesn’t work properly. This means that their connective tissue does not develop in the right way. This leads to kyphosis (hunchback) and scoliosis (sideways curve in the spine). It also leads to loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain.
Rarely, kyphoscoliotic Ehlers-Danlos syndrome has been caused by mutations in other genes, like the FKBP14 gene. People with mutations in this gene may also have issues with their muscles and their hearing.
Who else in my family should have testing for kyphoscoliotic Ehlers-Danlos syndrome?
If you have been diagnosed with kyphoscoliotic Ehlers-Danlos syndrome (EDS), it is helpful to share your genetic test results with your family. Everyone has two copies of the genes associated with EDS; they receive one from their father and one from their mother. Kyphoscoliotic EDS is most commonly caused by mutation in the PLOD1 gene, which causes it to work differently than it should.
Kyphoscoliotic EDS is passed down in what is called an autosomal recessive manner. This means that someone needs two gene mutations to develop kyphoscoliotic EDS, and they receive one copy of each mutation from their parents. Each parent is a carrier. Carriers do not develop symptoms of kyphoscoliotic EDS.
If two carriers for kyphoscoliotic EDS have children together, they have a 1 in 4 (or 25%) chance to have an affected child, with each pregnancy together. They have a 1 in 2 (or 50%) chance to have a child that is a carrier, just like them. They also have a 1 in 4 (or 25%) chance to have a child that is not a carrier and does not have kyphoscoliotic EDS. These odds are the same in every pregnancy the carriers have together. No parent has control over which genes they pass, or do not pass, to their children.
People with kyphoscoliotic EDS may be the first in a family to be diagnosed with the condition or may only have siblings with it, which is unlike other forms of EDS. It is very rare for someone with kyphoscoliotic EDS to have a child with the condition.
Sharing genetic testing results with family members can help others get genetic testing themselves, if they wish to have it. An early diagnosis of kyphoscoliotic EDS means that necessary medical precautions can be taken, to avoid complications from kyphoscoliosis or other symptoms.
What type of sample should be taken for kyphoscoliotic Ehlers-Danlos syndrome testing?
Genetic testing for kyphoscoliotic Ehlers-Danlos syndrome (EDS) is available. If you have symptoms and/or a family history of kyphoscoliotic EDS, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or mutations) in the PLOD1 gene (or other gene) that could cause it to not work properly. These are genes associated with kyphoscoliotic EDS. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to diagnose kyphoscoliotic EDS is by a urine test. People with kyphoscoliotic EDS have collagen proteins that aren’t formed correctly because of the changes in the PLOD1 gene. The laboratory can look at your urine to see if your collagen proteins are formed correctly or not. If they are not, then you may have kyphoscoliotic EDS.
Another way to have testing for kyphoscoliotic EDS is by checking the activity level for an enzyme (made by the PLOD1 gene) in a small skin sample. This is done following a skin biopsy procedure, in which a small amount of skin, like an eraser on a pencil, is taken. The skin biopsy will analyze the skin tissue to see how much PLOD1 enzyme activity there is. It is usually lower than normal in people with kyphoscoliotic EDS.
If genetic testing or other testing is not conclusive or not done, a diagnosis of kyphoscoliotic EDS may be made based on the person’s symptoms after a physical examination.
What treatments can help symptoms of kyphoscoliotic Ehlers-Danlos syndrome from getting worse?
As of 2018, there is no FDA-approved treatment for kyphoscoliotic Ehlers-Danlos syndrome (EDS), and there is no cure. Treatment is mainly to treat the symptoms of the disease, which can vary from person to person. The best way to keep the symptoms of kyphoscoliotic EDS from getting worse is to get regular checkups with all your doctors and other specialists. The cardiologist (heart doctor) should be seen to check on your heart and blood vessels. An orthopedic physician or surgeon should also be seen to check on your bones and joints. Most importantly, they will check your kyphoscoliosis. Kyphoscoliosis is a hunched back (kyphosis) with a sideways curve in the spine (scoliosis). Severe kyphoscoliosis may need surgery to fix. Physical therapy has been shown to up increase muscle strength and tone, and to help keep joints from dislocating. Since the skin is fragile, the best way to protect it is through pads, especially on knees and elbows for children.
What is the usual abbreviation for kyphoscoliotic Ehlers-Danlos syndrome?
Common abbreviations for Kyphoscoliotic Ehlers-Danlos syndrome include:
What is kyphoscoliotic Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. They affect connective tissue. Connective tissue is the material between the cells of the body that connects and supports different tissues and organs. It gives skin strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. People with EDS have an unexpected change (or mutation) in one of the genes that is important in producing or processing collagen. Because of these gene changes, they do not produce or process collagen properly and their connective tissue does not develop in the right way.
What health problems should I look for in kyphoscoliotic Ehlers-Danlos syndrome?
The main health problems to be looking for in kyphoscoliotic Ehlers-Danlos syndrome are bone and skin problems. People with kyphoscoliotic Ehlers-Danlos syndrome have kyphosis (a hunchback) and scoliosis (a sideways curve in the spine). Both may get worse over time and sometimes need surgery. Joints are very flexible and may pop out of place (dislocate) and this can cause chronic pain. Skin is very stretchy and it can bruise easily. It also heals poorly, so it is important to watch out for things that can easily bruise or injure your skin.
Other health issues can be less common and may need tests that a doctor would order to look more closely. Things to look out for include muscle weakness, especially in children. Lung issues can include lung disease, infection, chronic cough, and shortness of breath. Heart issues include congestive heart failure, mitral valve prolapse (the valve doesn’t close properly), problems with the aorta, and blood vessel rupture. Visual problems include nearsightedness, farsightedness, glaucoma, retinal detachment, and rupture of the eyeball.
What health problems are part of kyphoscoliotic Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. There are six major subtypes of EDS. Symptoms that are common to all types include loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in people with EDS are usually prone to popping out of place (dislocation) and chronic pain. Symptoms that are associated specifically with kyphoscoliotic Ehlers-Danlos syndrome include kyphosis (hunchback) and scoliosis (sideways curve in the spine). These symptoms can appear at birth or in early infancy and they get worse over time.
What gene change causes kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome is most commonly caused by different changes (or mutations) in the PLOD1 gene. PLOD1 helps to process a protein called collagen. Collagen is one of the major components in connective tissue. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin strength and elasticity. People with PLOD1 gene mutations have collagen that doesn’t work properly. This means that their connective tissue does not develop in the right way.
Rarely, kyphoscoliotic Ehlers-Danlos syndrome has been caused by mutations in other genes as well, including the FKBP14 gene. People with these gene mutations may also have issues with their muscles and their hearing.
What does it mean to have inherited a variant in the gene for kyphoscoliotic Ehlers-Danlos syndrome?
The genetic test for kyphoscoliotic Ehlers-Danlos syndrome (EDS) looks for changes (or mutations) in the PLOD1 gene or other rarer genes involved in the condition. These genes are all important in the formation of collagen protein in the body, which provides strength and flexibility to the connective tissue. When there is a mutation in the PLOD1 gene, the collagen is not formed properly and causes the connective tissue to be unstable and weaker than usual.
What are the main symptoms of kyphoscoliotic Ehlers-Danlos syndrome?
The most unique symptoms of the kyphoscoliotic form of Ehlers-Danlos syndrome are kyphosis (hunchback) and scoliosis (sideways curve to the spine). These symptoms can appear at birth or in early infancy. By three years old it is very noticeable, and usually gets worse over time. Severe kyphoscoliosis may require surgery. Children tend to have low muscle tone and may be behind in their motor development. They may sit up or walk later than other children their age.
People with kyphoscoliotic EDS usually also have loose, velvety skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves unique, large scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints are usually prone to popping out of place (dislocation) and chronic pain. Adults with kyphoscoliotic EDS may also have congestive heart failure, lung disease or infections, rupturing of the blood vessels, and vision problems.
What are the main symptoms of kyphoscoliotic Ehlers-Danlos syndrome in a young adult?
Symptoms of kyphoscoliotic Ehlers-Danlos syndrome in young adults (20s-30s) are similar to symptoms that children have. The most distinctive symptoms are kyphosis (hunchback) and scoliosis (sideways curve to the spine). These symptoms can get worse over time. Adults will also have loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints are usually prone to popping out of place (dislocation) and chronic pain.
Symptoms that are unique to adults with kyphoscoliotic EDS include congestive heart failure, lung disease or infections, rupturing of the blood vessels, osteoporosis, and vision problems.
What are the main symptoms of kyphoscoliotic Ehlers-Danlos syndrome in a child?
Children with kyphoscoliotic Ehlers-Danlos syndrome have similar symptoms to adults. The most distinctive symptoms are kyphosis (hunchback) and scoliosis (sideways curve to the spine). These may appear at birth or in early infancy and they will get worse over time. They also have loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves unique, large scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints are usually prone to popping out of place (dislocating) and chronic pain. Children tend to have low muscle tone and may be behind other children their age in their motor development, like with sitting up and walking.
What are the first steps after a diagnosis of kyphoscoliotic Ehlers-Danlos syndrome is made?
When someone is diagnosed with kyphoscoliotic Ehlers-Danlos syndrome (EDS), they often go for some initial tests. It is important to get these tests for the bones, heart, and eyes, so that doctors can know if the symptoms are there or getting worse. It is important to check the severity of kyphoscoliosis through x-rays. Kyphoscoliosis is a hunched back (kyphosis) and a sideways curve in the spine (scoliosis). Physical therapy may be recommended to strengthen the muscles, and to prevent joint dislocation. A cardiologist (heart doctor) usually does studies of the heart to determine if there is any sign of heart failure. An ophthalmologist (eye doctor) should look for any visual or physical problems in the eye.
What are the bone issues in kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. The symptoms that are unique to kyphoscoliotic Ehlers-Danlos syndrome are kyphosis (hunchback) and scoliosis (sideways curve to the spine). These symptoms can appear at birth or in early infancy. By three years old it is very noticeable, and usually gets worse over time. Severe kyphoscoliosis may require surgery.
All people with EDS experience loose joints. They can flex or bend their joints farther than other people can. This is called hyperextensibility. Joints are usually prone to popping out of place (dislocation), which causes chronic pain. Most people with EDS may also have osteoporosis.
Is there newborn testing for kyphoscoliotic Ehlers-Danlos syndrome?
As of 2018, newborn testing for kyphoscoliotic Ehlers-Danlos syndrome (EDS) is not available in any U.S. states. However, prenatal testing is possible if the baby’s parent is known to have a change (or mutation) in the gene that causes kyphoscoliotic EDS. The genetic test checks to see if the baby has the same mutation as the parent, before the baby is born. After a child is born, he or she can get tested for kyphoscoliotic EDS with a blood or saliva sample if they have symptoms, just as an adult would.
Is there more than one test for kyphoscoliotic Ehlers-Danlos syndrome?
One way to be tested for kyphoscoliotic Ehlers-Danlos syndrome (EDS) is through genetic testing. If you have symptoms and/or a family history of kyphoscoliotic EDS, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or mutations) in the PLOD1 gene (or other gene) that could cause it to not work properly. These are genes associated with kyphoscoliotic EDS. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to diagnose kyphoscoliotic EDS is by a urine test. People with kyphoscoliotic EDS have collagen proteins that aren’t formed correctly because of the changes in the PLOD1 gene. The laboratory can look at your urine to see if your collagen proteins are formed correctly or not. If they are not, then you may have kyphoscoliotic EDS.
Another way to have testing for kyphoscoliotic EDS is by checking the activity level for an enzyme (made by the PLOD1 gene) in a small skin sample. This is done following a skin biopsy procedure, in which a small amount of skin, like an eraser on a pencil, is taken. The skin biopsy will analyze the skin tissue to see how much PLOD1 enzyme activity there is. It is usually lower than normal in people with kyphoscoliotic EDS.
If genetic testing or other testing is not conclusive or not done, a diagnosis of kyphoscoliotic EDS may be made based on the person’s symptoms after a physical examination.
Is there a treatment for kyphoscoliotic Ehlers-Danlos syndrome?
As of 2018, there is no FDA-approved treatment for kyphoscoliotic Ehlers-Danlos syndrome (EDS), and there is no cure. Treatment is mainly to treat the symptoms of the condition, which can vary from person to person. The kyphoscoliosis (hunchback with sideways twist in the spine), should be monitored by an orthopedic (bone) doctor. Severe forms of kyphoscoliosis may need surgery. Braces and physical therapy are recommended to help keep the joints from popping out of place (dislocation). The skin is very fragile, so methods should be put in place to limit the amount of bruises and cuts. This includes helmets, and pads for the knees, shins, and elbows. This is especially recommended for children.
People with kyphoscoliotic EDS should have regular visits with the cardiologist (heart doctor) to watch for potential heart failure and blood vessel rupture. An ophthalmologist (eye doctor) should check for signs of vision problems or trouble with the eye.
Is kyphoscoliotic Ehlers-Danlos syndrome more common in some parts of the world?
As of 2018, there are no known ethnicities or parts of the world that are more likely to have kyphoscoliotic Ehlers-Danlos syndrome. Many people with kyphoscoliotic Ehlers-EDS have been reported in the Middle East, Turkey, and Greece. However, researchers cannot yet say definitively that that people from these parts of the world are more likely to have kyphoscoliotic EDS.
Is kyphoscoliotic Ehlers-Danlos syndrome a connective tissue disease?
Ehlers-Danlos syndrome (EDS) is a group of related genetic disorders that affect connective tissue. Connective tissue is the material between the cells of the body that connects and supports other tissue and organs. It gives skin elasticity. A structural protein called collagen is one of the major components in connective tissue. People with kyphoscoliotic EDS have an unexpected change (or mutation) in a gene that is important in processing collagen. Because of this gene mutation, people with kyphoscoliotic EDS have collagen that doesn’t work properly, and their connective tissue does not develop in the right way.
If you have kyphoscoliotic Ehlers-Danlos syndrome, will you always have symptoms?
People who have the gene change (or mutation) that causes kyphoscoliotic Ehlers-Danlos syndrome will always show symptoms of the condition. However, not everyone will show the same symptoms. There are three main symptoms people usually have. These are hyperelastic (very stretchy) skin, hypertextensive (extremely flexible) joints, and kyphoscoliosis. Kyphoscoliosis is a hunched back with a sideways curve in the spine. However, there are more possible symptoms that some people may have, while others don’t. These include congestive heart failure, lung disease or infections, rupturing of the blood vessels, osteoporosis, and vision problems.
I have kyphoscoliotic Ehlers-Danlos syndrome. Will my children have it?
It is unlikely for someone with kyphoscoliotic EDS to have children with it, due to the way it is inherited in families.
Everyone has two copies of the genes associated with EDS; they receive one from their father and one from their mother. Kyphoscoliotic Ehlers-Danlos syndrome is caused by changes (or mutations) in the PLOD1 gene (or very rarely, these are in the FKBP14 gene). These genes are involved in the formation of collagen in the body, so mutations within them cause them to work differently than they should.
Kyphoscoliotic EDS is passed down in what is called an autosomal recessive manner. This means that someone needs two gene mutations to develop kyphoscoliotic EDS, and they receive one copy of each mutation from their parents. Each parent is a carrier. Carriers do not develop symptoms of kyphoscoliotic EDS.
If two carriers for kyphoscoliotic EDS have children together, they have a 1 in 4 (or 25%) chance to have an affected child, with each pregnancy together. They have a 1 in 2 (or 50%) chance to have a child that is a carrier, just like them. They also have a 1 in 4 (or 25%) chance to have a child that is not a carrier and does not have kyphoscoliotic EDS. These odds are the same in every pregnancy the carriers have together. No parent has control over which genes they pass, or do not pass, to their children.
People with kyphoscoliotic EDS may be the first in a family to be diagnosed with the condition or may only have siblings with it, which is unlike other forms of EDS. It is very unlikely for someone with kyphoscoliotic EDS to have a child with the condition.
How is kyphoscoliotic Ehlers-Danlos syndrome inherited?
Everyone has two copies of the genes associated with EDS; they receive one from their father and one from their mother. Kyphoscoliotic Ehlers-Danlos syndrome is caused by changes (or mutations) in the PLOD1 gene (or very rarely, these are in the FKBP14 gene). These genes are involved in the formation of collagen in the body, so mutations within them cause them to work differently than they should.
Kyphoscoliotic EDS is passed down in what is called an autosomal recessive manner. This means that someone needs two gene mutations to develop kyphoscoliotic EDS, and they receive one copy of each mutation from their parents. Each parent is a carrier. Carriers do not develop symptoms of kyphoscoliotic EDS.
If two carriers for kyphoscoliotic EDS have children together, they have a 1 in 4 (or 25%) chance to have an affected child, with each pregnancy together. They have a 1 in 2 (or 50%) chance to have a child that is a carrier, just like them. They also have a 1 in 4 (or 25%) chance to have a child that is not a carrier and does not have kyphoscoliotic EDS. These odds are the same in every pregnancy the carriers have together. No parent has control over which genes they pass, or do not pass, to their children.
People with kyphoscoliotic EDS may be the first in a family to be diagnosed with the condition or may only have siblings with it, which is unlike other forms of EDS. It is very rare for someone with kyphoscoliotic EDS to have a child with the condition.
How do they make a diagnosis of kyphoscoliotic Ehlers-Danlos syndrome?
Genetic testing for kyphoscoliotic Ehlers-Danlos syndrome (EDS) is available. If you have symptoms and/or a family history of kyphoscoliotic EDS, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or mutations) in the PLOD1 gene (or other gene) that could cause it to not work properly. These are genes associated with kyphoscoliotic EDS. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to diagnose kyphoscoliotic EDS is by a urine test. People with kyphoscoliotic EDS have collagen proteins that aren’t formed correctly because of the changes in the PLOD1 gene. The laboratory can look at your urine to see if your collagen proteins are formed correctly or not. If they are not, then you may have kyphoscoliotic EDS.
Another way to have testing for kyphoscoliotic EDS is by checking the activity level for an enzyme (made by the PLOD1 gene) in a small skin sample. This is done following a skin biopsy procedure, in which a small amount of skin, like an eraser on a pencil, is taken. The skin biopsy will analyze the skin tissue to see how much PLOD1 enzyme activity there is. It is usually lower than normal in people with kyphoscoliotic EDS.
If genetic testing or other testing is not conclusive or not done, a diagnosis of kyphoscoliotic EDS may be made based on the person’s symptoms after a physical examination.
How do I get tested for kyphoscoliotic Ehlers-Danlos syndrome?
Genetic testing for kyphoscoliotic Ehlers-Danlos syndrome (EDS) is available. If you have symptoms and/or a family history of kyphoscoliotic EDS, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other samples that can be used to test your DNA (less commonly). The sample is sent to a laboratory that will study your DNA in detail. The test will usually check to see if there are any changes (or mutations) in the PLOD1 gene (or other gene) that could cause it to not work properly. These are genes associated with kyphoscoliotic EDS. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to diagnose kyphoscoliotic EDS is by a urine test. People with kyphoscoliotic EDS have collagen proteins that aren’t formed correctly because of the changes in the PLOD1 gene. The laboratory can look at your urine to see if your collagen proteins are formed correctly or not. If they are not, then you may have kyphoscoliotic EDS.
Another way to have testing for kyphoscoliotic EDS is by checking the activity level for an enzyme (made by the PLOD1 gene) in a small skin sample. This is done following a skin biopsy procedure, in which a small amount of skin, like an eraser on a pencil, is taken. The skin biopsy will analyze the skin tissue to see how much PLOD1 enzyme activity there is. It is usually lower than normal in people with kyphoscoliotic EDS.
If genetic testing or other testing is not conclusive or not done, a diagnosis of kyphoscoliotic EDS may be made based on the person’s symptoms after a physical examination.
How common is kyphoscoliotic Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. Kyphoscoliotic Ehlers-Danlos syndrome is a member of this group. Overall, Ehlers-Danlos syndrome affects between 1 in 5,000 to 1 in 10,000 people.
Does everyone with kyphoscoliotic Ehlers-Danlos syndrome have a gene mutation?
Kyphoscoliotic Ehlers-Danlos syndrome is caused by different changes (or mutations) in the PLOD1 gene. As of 2018, everyone who with mutation in the PLOD1 gene will have symptoms of kyphoscoliotic Ehlers-Danlos syndrome at some point. You cannot have kyphoscoliotic Ehlers-Danlos syndrome without a gene mutation.
Rarely, kyphoscoliotic Ehlers-Danlos syndrome has been caused by mutations in other genes, like the FKBP14 gene. These people may also have issues with their muscles and their hearing.
Can my child still have kyphoscoliotic Ehlers-Danlos syndrome without having a PLOD1 gene mutation?
Everyone who has a PLOD1 gene mutation will develop symptoms of kyphoscoliotic Ehlers-Danlos syndrome at some point. The large majority of individuals have mutations in the PLOD1 gene. Very rarely, kyphoscoliotic Ehlers-Danlos syndrome is caused by mutations in the other rare genes. It is possible that the gene mutation causing symptoms of someone may not be found by genetic testing. In this case, a diagnosis is made based on symptoms after a physical examination with a doctor.
Not everyone will have the same symptoms of kyphoscoliotic EDS. There are three main symptoms that people with kyphoscoliotic EDS usually have. These are very stretchy skin, extremely flexible joints, and kyphoscoliosis. Kyphoscoliosis is a hunched back with a sideways curve in the spine. However, there are more possible symptoms that some people may have, while others don’t. These include congestive heart failure, lung disease or infections, rupturing of the blood vessels, osteoporosis, and vision problems
Are there things to avoid if you have kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome (EDS) is a member of the Ehlers-Danlos group of syndromes. All these conditions have the same thing in common, which is an incorrectly formed collagen protein. Collagen is needed to help keep connective tissue strong. Connective tissue is the material between the cells of the body that connects and supports tissues and organs. It gives skin strength and elasticity. Incorrectly formed collagen leads to fragile connective tissues, which is why people with EDS have very stretchy skin and very flexible joints. The skin can bruise easily and cuts don’t heal properly. Joints can dislocate, causing chronic pain. In order to minimize these issues, sports or other extreme physical activities that affect the joints or skin should be avoided. These include contact sports, as well as gymnastics and long-distance running. Swimming is a good form of exercise because it strengthens the muscles and helps keep the joints from dislocating.
Are there other names for kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome is also known as:
Are there different types of kyphoscoliotic Ehlers-Danlos syndromes?
Kyphoscoliotic Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS. Kyphoscoliotic Ehlers-Danlos syndrome is known as Type VI (six) EDS. There is only one type of kyphoscoliotic Ehlers-Danlos syndrome.
All people with EDS have hyperextensive (extremely flexible) joints, and hyperelastic (very stretchy) skin. However, only people with kyphoscoliotic Ehlers-Danlos syndrome have kyphosis (a hunchback) and scoliosis (a sideways curve to the spine).
Are there any typical symptoms of kyphoscoliotic Ehlers-Danlos syndrome that are "odd" or "unique"?
Kyphoscoliotic Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS, and many minor types (which are more rare). All these types of EDS share many common symptoms, like very stretchy skin and very flexible joints. The main symptom that sets kyphoscoliotic EDS apart from the other types of EDS is kyphoscoliosis. Someone with kyphoscoliosis has a hunched back (kyphosis) with a sideways curve in the spine (scoliosis). What makes this unusual is that it usually appears at birth or in early infancy in people with kyphoscoliotic EDS. It is very noticeable by three years old, and it can get worse over time. Severe kyphoscoliosis may require surgery.
Any other diseases that look a lot like kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS, and many that are much more rare. All these types of EDS share many common symptoms, like very stretchy skin and very flexible joints. It is possible for kyphoscoliotic Ehlers-Danlos syndrome to be mistaken for another type of EDS. It can also be mistaken for muscle diseases that cause low muscle tone or muscle weakness. These individuals may also have very flexible joints. Kyphoscoliotic Ehlers-Danlos syndrome also can cause low muscle tone and muscle weakness.