Molecular genetic testing through a blood sample might be conducted to determine the presence of a faulty FBN1 gene. A diagnosis of Marfan syndrome is based on signs, family history, and results of diagnostic tests. The doctor might suggest some medicines like, For eye-related issues, an ophthalmologist may suggest either. The treatment may include: Bone and joint problems are treated by a doctor with special training (orthopedist or orthopedic surgeon). The healthcare provider will ask about your child's symptoms and health history. The easiest way to lookup drug information, identify pills, check interactions and set up your own personal medication records. Mitral valve prolapse (valves are “floppy”, slack and don’t close right), Blood leaks backward through a defective heart valve (regurgitation), Breastbone caving inward or pushes forward. If your child has a follow-up appointment, write down the date, time, and purpose for that visit. The walls of his aorta may also become weak and widen, which can lead to a tear, leak, or aneurysm. But as they grow, they develop common Marfan symptoms, traits and characteristics. The abnormal gene does occur as follows: Rate of occurrence of Marfan syndrome is equal in both boys and girls. So good oral hygiene is important. See a medical professional for personalized consultation. Connective tissue gives strength and flexibility to the entire body, including skin, organs mainly eyes, blood vessels and heart valves, bones, joints and muscles. We do not endorse non-Cleveland Clinic products or services. Eye Exam for Kids: How Soon Should I See A Pediatric Eye Doctor? Poor healing of wounds or scars on the skin, Dilation of the aortic root (the initial part of the aorta as it arises from the left ventricle), Pulmonary disease (such as emphysema or spontaneous pneumothoraces), Detached retina, the layer of the back of the eye. The doctor will ask about your child’s history and your family’s history. Your child will be closely watched for problems by getting regular checkups, echocardiography, and complete eye exams. The affected gene is FBN1. This is a doctor with special training to treat heart problems in children. Symptoms can be varied from mild to severe. Researchers believe this is more often when the father is older than 45. Marfan syndrome is a genetic disorder that affects the connective tissue. Your child needs to have a significant number of the symptoms on the checklist in order to be diagnosed with the disorder. Your child cannot control his urine or bowel movements. Tracheoesophageal Fistula and Esophageal Atresia, The Children's National Research Institute, Sheikh Zayed Institute for Pediatric Surgical Innovation, Clinical and Translational Science Institute, Assisting with growth and development of the body's cells, both before and after birth, Acting as an adhesive to hold certain tissues together, Facilitating the passage of light through the eye, Leakage of the aortic valve (aortic regurgitation), Scoliosis, which is a sideways curvature of the spine, or kyphosis, which is a round curvature of the spine that can give the appearance of a hunchback, Dislocation of the lens (the transparent structure inside the eye that focuses light rays onto the retina), Your child's age, overall health, and medical history, Your child's tolerance for specific medications, procedures, or therapies, Expectations for the course of the disease, An annual echocardiogram, or echo (to monitor the heart and aorta), Monitoring of the skeletal system for abnormalities (such as scoliosis) that can be noted in childhood or adolescence, Lifestyle adjustments (to reduce the risk of injury to the aorta, such as avoiding contact sports or stressful exercise). Similarly, when a child is born with Marfan syndrome to unaffected parents, the child will have a 50 percent risk of passing the gene on to the next generation. Coronavirus Assessment Tool is taking longer to load than usual. These infections often start in the mouth. Before your visit, write down questions you want answered. Does Marfan syndrome affect intelligence? We care about your privacy. A child with Marfan syndrome can have many different signs and symptoms. The symptoms of Marfan syndrome may vary greatly, even among the same family. Your child has severe pain in his chest or abdomen. See a doctor if you observe any of the following changes in the baby’s health: The risk of the baby having Marfan syndrome increases if he or she has a parent with the disorder. Connective tissue holds the body's cells, organs, and other tissue together. The doctor will also do the following test regularly: Early diagnosis is important and will help in your child’s future health betterment. It is not inherited from either of the two parents. Connective tissue gives strength and support to tendons, ligaments, blood vessels, and other parts of the body. Our stringent editorial guidelines allow us to cite only from reputed research institutions, academic journals, medically established studies, and highly regarded media and news agencies. We'll assume you're ok with this, but you can opt-out if you wish. A small number of children may need antibiotics before some dental and medical procedures. He will also ask about your child's health history. Our cancer genetics experts help answer important questions about your child’s inherited risk for cancer. Eye problems are treated by an eye specialist (ophthalmologist). We do not endorse non-Cleveland Clinic products or services. Marfan syndrome is a genetic disorder affecting the connective tissue in the body. Always consult your child's health care provider for a diagnosis. FBN1 gene is responsible for the formation of a protein called fibrillin1 which combines with another fibrillin1 and makes a filament, which is called microfibrils a connective tissue. Signs and symptoms may not all appear at once and may only appear as your child gets older. Along with the common traits listed above, other signs and symptoms the doctor will look for are: To diagnose this condition, your doctor will do a complete examination for the physical traits of Marfan syndrome. And a child is more likely to have Marfan syndrome if he or she has a parent with the disorder. Gene mutation is the reason for one out of four Marfan syndrome cases. Rarely, the abnormal gene is formed due to a new mutation. Your child may only be able to do light physical activity and certain sports, depending on his condition. Your child has pain in his eyes and has trouble seeing all of a sudden. When symptoms of Marfan syndrome are present at the time of birth, then the condition is known as neonatal Marfan syndrome. Many of the traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years. Marfan syndrome may affect different parts of his body and cause any of the following: Your child's healthcare provider will do a complete physical exam to check for signs of Marfan syndrome. Organs and body systems that can be impacted include: Marfan syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups. The affected gene FBN1 present on the chromosome is faulty or absent. Severe chest pain, pain between the shoulder blades, or in the upper belly (abdomen). Treatment may include braces, therapy, or surgery. Marfan system classically affects the skeletal, cardiovascular, and ocular systems of the body (3). Connective tissue gives strength and support to tendons, ligaments, blood vessels, and other parts of the body. Heart and blood vessel problems pose the largest threat to a person with Marfan syndrome, which emphasizes the importance of regular evaluation by your child's health care provider. The latest information about heart & vascular disorders, treatments, tests and prevention from the No. In some cases, the condition is caused due to (new) gene mutationin the affected baby. There is no cure for Marfan syndrome. Regular electrocardiograms or electrocardiographs should be done at the frequency and duration suggested by the doctor. Call your child's healthcare provider if you notice changes in your child. Last reviewed by a Cleveland Clinic medical professional on 05/03/2019. Cesarean delivery (C-section) is generally recommended for pregnant women with Marfan syndrome to prevent strain on the aorta and decrease the risk of aortic dissection during labor. © © 2019 Parenting Healthy Babies Information on this website is for education purpose only. When Marfan syndrome is diagnosed early, the doctor will watch your child for problems that may require attention and treatment.

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