TSSUS is the largest organization – worldwide – supporting the Turner syndrome community.
The Turner Syndrome Society of the United States: Advancing knowledge, facilitating research, and supporting all those touched by Turner syndrome.
Turner Syndrome
Physical Health
Turner syndrome is a variable condition affecting multiple body systems. Everyone with Turner syndrome is unique, and not all health topics will apply to everyone. However, it is important to understand how TS affects the body, as some conditions could arise at some point in your life.
Finding a doctor knowledgeable about the medical aspects of Turner syndrome is essential. If you have a healthcare professional who is unfamiliar with TS but willing to learn, they can contact TSSUS, and we can network them with TS experts.
The TSSUS Provider Directory lists TS clinics, doctors, and providers, by state.
Topics
Infant & Toddler Feeding • Bones • Eyes & Vision • Ears & Hearing • Fertility • Kidneys • Liver • Teeth • Thyroid • Lymphatic System
Helpful Tips for Feeding Infants & Toddlers
Be patient - Especially as your daughter gets older and is trying to feed herself, this situation is likely even more frustrating to her than it is to you!
Find the right tools—Check with your doctor or therapist to see if different utensils, such as bottles and/or nipples, might help her manage it better. If you are bottle-feeding her, a lactation consultant may be able to offer some helpful tips/tools.
Try smaller meals - If she struggles with reflux or spitting up, feed her smaller meals more frequently rather than larger ones further apart. If this doesn’t work, talk to your doctor about medications that might help.
Introduce new textures - This can help heighten her curiosity about food. Colors and a nice presentation may help, too. Avoid foods that you know make her gag or set off aversions. If she struggles with chewing, keep meals soft and wet.
Get her involved—As she gets older, involve her in making meals, setting the table, and other activities. Give her the chance to help you choose what foods to make and eat.
Avoid “mouth stuffing” - Encourage her to swallow all of her food before taking another bite. This will help if she has a high palate. Some girls may have difficulty feeling the food in their mouths, so they will try to overstuff.
Overall, try to find ways to help your unique butterfly find the best mealtime methods for her! Don’t hesitate to contact us at TSSUS or ask your doctor and/or therapist if you need help.
For additional information about Infant & Toddler Feeding, please read the Patient Guide to Feeding Issues in Turner Syndrome
Transitioning from Pediatric to Adult Care
The transitional period from pediatrics to adulthood is the ideal time to learn the details of their health history and needs and of the impact of TS into adulthood.
Bones
It’s important to be aware of the skeletal system abnormalities in Turner syndrome as they are common and vary from person to person. Bone irregularities may be present at birth or may develop across the lifespan.
Women and girls with TS are at a higher risk of developing osteoporosis, a condition caused by a reduction of calcium and collagen in the bones. This "thinning" of the bones can increase the risk of fractures. The risk is doubled in women with TS, and the wrist is the most vulnerable site.
Even with normal bone strength (bone mineral density—BMD), fracture risk is increased. The increase in falls may be related to older age and/or hearing impairments.
Common skeletal differences in TS (additional photos are available on the "TS Overview" page)
The lower jaw
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Is set back from the upper jaw and appears recessed when the face is viewed from the side. (Retrognathia)
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Babies may struggle to latch onto a nipple when feeding properly
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Biting or chewing food may be difficult
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Teeth may become crowded or irregularly positioned
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Snoring and sleep apnea may be related to a recessed jaw
A short neck may result from small and/or fused cervical vertebrae. (Hypoplasia)
Broad shoulders and pelvis lend to a stocky appearance
Arms may turn out at the elbow when arms are relaxed while standing. (Cubitus valgus).
Although rare, the bones between the wrist and elbow may bow out slightly; this condition is called a Madelung deformity.
The spine
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Scoliosis (curvature of the spine) occurs in 10% of those with TS during early childhood or adolescence. It may progress or develop during growth hormone therapy.
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Kyphosis (spine bending forward)
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Irregularly shaped bones called vertebral wedging result from deterioration of the spine.
The hips
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Infants have an increased risk of congenital hip dislocation called dysplasia. If detected early, it can easily be treated within a few weeks.
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In rare cases, the hip(s) can be dislocated at birth
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The top of the hip bone can slip off the long bone during later years of growth (slipped capital femoral epiphysis).
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congenital hip dislocation increases the risk of osteoarthritis in the hips of older women
The knees
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When the legs are straightened, the knees may touch each other, commonly called "knock-kneed" (Genu valgum).
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Those unable to touch their feet together while straightening their legs may experience knee instability or body alignment abnormalities.
The feet
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Toes spreading out create a wide or splaying of the front of the foot. Treatment is important to prevent foot weakness. https://www.physio-pedia.com/Splay_foot
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Some have a toe deformity of the 4th toe called brachymetatarsia.
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“Flat feet” usually develop during childhood due to the arch collapsing downward and/or inward (overpronation). If the foot is not structurally supported, it may cause pain.
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The subtalar joint (ankle/heel area) may be weak, but it is vital to movement. It helps to readjust your foot's lateral (side-to-side) position as you navigate uneven or shifting terrain.
Care and treatment
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Proper estrogen treatment improves bone mineral density (BMD) and helps protect bones.
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Adequate calcium and vitamin D intake are essential to prevent osteoporosis.
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Knee, shoulder, and hip alignment are necessary to measure.
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A DEXA scan should be performed every 3-5 years and annually at the start of specific treatments like estrogen and GH. Bone mass density tests must consider small bone size related to short stature.
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Physical therapy supports misalignment issues in the shoulders, hips, knees, and ankles and how the body carries its weight.
Resources
Exercises to reduce or prevent falling (National Osteoporosis Foundation)
Eyes and Vision
Several eye conditions are more common in classic and mosaic TS than in the general population.
These include:
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Nearsightedness, farsightedness, age-related vision issues, and astigmatism. These issues occur slightly more often than in the general population.
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Strabismus (wandering or crossed eye) affects about one-third of those with TS. It usually becomes evident between 6 months and 7 years of age. If not treated promptly with special glasses or surgery, the wandering eye(s) will have decreased vision in 30-50% of those affected.
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Amblyopia (“lazy eye” with decreased vision)
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Ptosis (droopy upper eyelid)
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Red/green color blindness or color vision abnormalities (8%)
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Congenital glaucoma (increased pressure inside the eye starting at birth)
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Cataracts in older women (more research needed)
Eye and vision exams should be performed by a primary doctor as part of each physical exam and by an ophthalmologist beginning at age 2 and then as recommended.
Vision affects balance, driving, learning, and other daily needs. It’s important to determine the cause of changing vision, as it could result from medications or conditions like diabetes or high blood pressure.
The Clinical Practice Care Guidelines for the Care of Women and Girls with Turner Syndrome recommendations to physicians:
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We recommend a comprehensive ophthalmological examination between 12 and 18 months of age or at the time of diagnosis, if at an older age, emphasizing the early correction of refractive errors.
Join the Turner Syndrome Research Registry to help us learn more about eyes and vision in TS. It's free and allows you to support TS research from home.
Ears and Hearing in Turner Syndrome
Frequent ear infections and short stature in undiagnosed girls can be a "red flag" and a physician
should refer to a pediatric endocrinologist for further investigation.
How Does Turner Syndrome Affect Hearing?
Three types of hearing loss can affect girls and women with Turner syndrome:
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Conductive hearing loss
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Sensorineural hearing loss
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Mixed hearing loss
The ear consists of three parts: the outer ear, the middle ear, and the inner ear. All three of these are affected in those with Turner syndrome.
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The outer ear includes the pinna or auricle, the part we see, and the auditory (ear) canal. While they do not affect hearing, low-set ears, and a wide, short ear canal are common.
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The middle ear includes the eardrum, or tympanic membrane, the three middle ear bones, called ossicles, and the eustachian tube.
• Recurrent infections of the middle ear, otitis media, are common, starting in infancy and continuing into adolescence, but are less common in early adulthood and beyond.
• Some people with TS can have chronic middle ear problems, including eardrum perforations, hearing loss, and a cholesteatoma.
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The inner ear includes the organs of balance and hearing. The tiny bones in the middle ear transmit sound from the eardrum across the middle ear and vibrate against the cochlea. Vibrations in the fluid cause tiny hair cells inside the cochlea to vibrate and generate nerve impulses that then travel through the auditory nerve to the brain. Sensorineural hearing loss results from a problem in this inner part of the ear.
Hearing Management in Turner Syndrome, Dr. Johnson is an associate professor at the UNC School of Medicine. She practices as a clinical audiologist at the UNC Hearing and Communication Center (UNC-HCC), a faculty clinic in Chapel Hill. In this video, she discusses TS-related hearing conditions for children and adults. This presentation was recorded virtually by TSSUS in 2022.
The Clinical Practice Care Guidelines for the Care of Women and Girls with Turner Syndrome recommendations to physicians:
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A formal audiometric evaluation (hearing test) is recommended every 5 years regardless of the initial age at diagnosis, initial hearing threshold levels, karyotype, and/or presence of a mid-frequency sensorineural hearing loss to ensure early and adequate technical and other rehabilitative measures.
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aggressive treatment of middle-ear disease and otitis media (OM) with antibiotics and placement of myringotomy tubes as indicated. Important antibiotic WARNING.
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Early recognition, evaluation, and appropriate management of hearing impairment in those with TS are crucial to avoid hearing-related speech problems, risk of isolation, depression, and, possibly, dementia.
Resources
What hearing loss sounds like- Starkey Hearing Technologies hearing loss simulator
Hearing Loss Association of America
Hearing Loss/Hearing Aid Information from Healthy Hearing
Resources for Hearing Aid Assistance
Fertility and Turner Syndrome
If you ask a woman with TS what she considers the saddest part of her TS journey, she will most likely mention infertility. Infertility is a very painful reality for many women with TS. However, a small percentage can conceive naturally, and a growing number are conceiving and giving birth with the help of medical assistance such as in vitro fertilization.
The Clinical Practice Care Guidelines for the Care of Women and Girls with Turner Syndrome recommendations as related to fertility and reproductive-assisted technologies:
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Due to early ovarian failure, most women with TS cannot conceive on their own.
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Spontaneous pregnancies occur occasionally, but the frequency of miscarriages is high, and malformations occur frequently in live-born infants of these pregnancies.
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Counseling regarding fertility issues should begin at the time of diagnosis and motherhood options should be mentioned.
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Patients need to be counseled fully regarding the increased risks of maternal complications.
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Normal heart and blood pressure screening results do not rule out potential severe complications.
Please refer to the details within the guidelines or related link for:
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Assisted reproductive technologies utilizing an individual's own eggs,
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Technologies using eggs from another woman
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Recommendations for follow-up during pregnancy
Follow TS research advances or support research to learn more about fertility and TS.
Resources
The National Infertility Association
TSSUS is unaware of financial resources to assist with IVF at this time.
Kidney Information and Turner Syndrome
According to the TS Clinical Practice Guidelines, the authors strongly recommend a renal
ultrasound at diagnosis. A doctor specializing in the kidneys is called a Nephrologist.
Kidney anomalies affect 24-42% of those with TS, including:
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11% have horseshoe-shaped kidneys
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5- 10% have partially or totally duplicated kidneys
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2- 3% are absent (one kidney)
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Less than 1% have multicystic or ectopic kidneys
Mortality related to kidney disease is 7-fold higher than in the general population.
Urinary tract infections are thought to be more frequent because of obstruction or reflux (urine flows back to the urinary tract). Kidney scarring due to prolonged reflux or recurrent infections can result in elevated blood pressure, therefore proper intervention (including antibiotic treatment or surgical correction) is critical.
Liver Information related
to Turner Syndrome
Contact TSSUS if your doctor wants to consult a TS liver expert regarding your health needs.
According to the TS Clinical Practice Guidelines authors, they recommend:
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Monitoring liver function tests (including AST, ALT, GGT, and alkaline phosphatase) yearly, starting at 10 years old
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Liver test abnormalities are common and often have no related symptoms but increase with age
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High liver enzymes tend to persist or progressively increase and rarely revert to normal, yet life-threatening complications are uncommon.
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The risk of cirrhosis is sixfold more than the general population
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Appropriate timing for the initiation of female hormone replacement therapy (estrogen/ ERT) for the improvement of liver function
Gastroenterologists are specialists who focus on the digestive organs and liver and hepatologists focus exclusively on the liver.
The following video focuses on general liver health. All information about your liver health should be discussed with your personal doctor.
How Turner Syndrome May Affect Your Teeth
Common dental differences in TS include:
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Baby teeth may appear earlier than usual
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Permanent teeth may appear earlier than usual
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Teeth may become crowded if the jaw is small or the roof of the mouth is narrow
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Some experience root shortening (shrinking), which may lead to tooth loss, especially during
orthodontic treatment
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Teeth may have thinner enamel
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Teeth may have abnormal dentin structure (under the enamel)
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Gingivitis is the inflammation of the gums and is common in adults
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The good news! Cavities are less common
Treatments and Recommendations
Share a copy of page 11 of the Patient/Family version of the TS Clinical Practice Guidelines with your dentist and follow best practices for healthy teeth.
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Visit a pediatric dentist by age 2
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Visit an orthodontist around the age of 7
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Visit a dentist every year for regular teeth cleanings and check-ups
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A review of your bone density before dental treatments is important and will help determine the best treatment approaches, especially as you age
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Orthodontic treatment plans may need adjustments related to:
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a small jaw and/or narrow roof of the mouth
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timing of treatments due to delayed growth or growth hormones
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Treatment of tooth misalignment is essential to prevent tooth deformities, teeth-crowding, jaw-muscle spasms, chewing difficulties, breathing obstruction, and disturbed digestion
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Certain dental procedures may require antibiotics if heart issues are present. Your dentist should refer to the professional version of the TS Clinical Practice Guidelines for information.
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Protect your teeth enamel
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Take care of the dentin under the enamel by removing sources of infection or pain and following your dentist's treatment recommendations
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Estrogen is vital to maintaining healthy, strong teeth
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Treat gingivitis, as it may lead to bone loss surrounding the roots of the teeth
Thyroid, Autoimmune Disease, and Turner Syndrome
Between 10 and 30% of people with Turner syndrome develop hypothyroidism (low thyroid hormone).
For Turner syndrome, the main cause of thyroid dysfunction is inflammation of the thyroid gland. As the gland's function worsens, an increase in TSH (thyroid-stimulating hormone) occurs even before thyroid hormone levels become low. A blood screening for TSH is likely to detect a significant thyroid hormone deficiency. Hashimoto thyroiditis is common in TS and does not appear to be linked to a specific karyotype.
The risk of hypothyroidism (low function) increases with age, and symptoms are often subtle, so thyroid function should be checked at the time of diagnosis and every year throughout life.
Common Symptoms of Hypothyroidism
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Weight gain
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Constipation
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Low energy
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Dry skin
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Slow growth in children
The Lymphatic System and Turner Syndrome
Those without signs of swelling could be at risk for complications associated with lymphedema
Lymphedema is a condition in which swelling occurs because of damage to or problems with the lymphatic
system. This swelling does not go down with time or elevation. The lymphatic system is a part of the circulatory
system that removes excess fluid and waste from the body's tissues, filters them through the lymph nodes, and returns
the fluid to the bloodstream. The lymphatic system also maintains your body's fluid levels and supports your immune
system. If this system is not functioning properly, the fluid cannot move throughout the system as it should; instead, it collects and "pools" in certain areas. If left untreated, it can lead to hardening of the tissue as well as an increased risk of
infection.
Turner Syndrome and Lymphedema
Because the lymphatic system sometimes does not develop fully before birth, if you have TS, you might be at a higher risk of developing lymphedema. One of the most common noticeable physical features of a newborn with TS is puffy hands and feet caused by the buildup of fluid in surrounding tissues before birth. This extra fluid can also collect around the neck, forming what is called cystic hygroma. After birth, this fetal lymphedema can cause a girl with TS to have a thicker, shorter neck with a “webbed” appearance, a low hairline at the back of the neck, low set ears, and narrow fingernails and toenails that curve upwards (nail dysplasia). Lymphatic swelling can occur at various points in life, not just in childhood. If you are a woman with TS, you should be aware of the warning signs and talk with your doctor if you have any questions or concerns.
What are the Warning Signs?
If you have Turner syndrome, you may have other medical concerns that seem more serious. Because of this, it can be easy for you and your doctors to miss the warning signs of lymphedema. Ignoring these can lead to it worsening or creating further difficulties.
If you are experiencing any of these warning signs, you should consult your doctor or see a lymphedema specialist:
• Do you have a full or heavy feeling in your leg or arm?
• Are you unable to pinch skin up easily on top of your foot or hand?
• Do you feel a tightness in the skin or tissue of certain areas?
• Have you noticed decreased flexibility in your hand, foot, wrist, or ankle?
• Are you having difficulty fitting into clothing in a specific area?
"My toddler kept having ‘general infections’ and would get a high fever and become lethargic. Eventually, she was diagnosed with cellulitis, an infection related to her lymphedema. The clue was that each time she had the infections, her foot was red and warm to the touch.” - Mom of a daughter with TS.
If you notice a rash, itching, redness, pain, an increase in temperature, or fever, you should see your
physician immediately. Cellulitis is a bacterial infection of the deep layer of skin (dermis) that often affects people with lymphedema. It may cause the affected area to be warm and red which may be accompanied by a fever. Often cellulitis is overlooked as a general infection and not addressed effectively.
Literature has linked cardiac defects and a webbed neck to fetal edema and other features are suspected to be linked, such as widely spaced nipples, low set ears, and a low hairline. More research is needed on the characteristics related to fetal edema.
Lymphedema therapy should begin as early as possible, even in infancy to prevent further tissue damage.
Resources
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Article summary from a lymphatic presentation at the TSSUS conference
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Jana Rothbauer, OTR, CLT-LANA a TS lymphedema specialist. Contact TSSUS for
her information.
Patient Guide to Lymphedema in Turner Syndrome
