Wiedemann-Steiner syndrome (WSS) is a rare genetic syndrome that occurs due to a mutation in the KMT2A gene. This gene has a role in organ formation and blood cell and immune system regulation.
The Wiedemann-Steiner syndrome is hereditary and follows an autosomal dominant pattern (only one affected gene is enough to cause the disease). Hence, if one parent has the disease, there is a 50 percent chance that their child will get it (irrespective of the child’s gender or the gender of their affected parent).
However, most cases of WSS are caused by spontaneous gene mutations (de novo mutations), and no family history can be ascertained.
What are the signs and symptoms of Wiedemann-Steiner syndrome?
Wiedemann-Steiner syndrome (WSS) includes the following clinical presentations:
- Distinctive facial features: Thick eyebrows, long eyelashes, hairy body, wide-spaced eyes, and narrow eye openings. Additionally, they have short stature and spinal cord deformities.
- Delayed milestones and growth delay: Poor muscle tone, floppy babies, delayed neck holding, and inability to swallow are often seen in infancy. In some cases, there could be delayed tooth eruption and feeding problems, requiring gastric tube insertion.
- Intellectual disability: Generally mild to a moderate degree. Seizures could happen in many cases. They could lead to intellectual disability.
- Behavioral issues: Poor attention span, sleep issues, learning problems, anxiety, and autistic spectrum disorders are common in individuals.
- Miscellaneous issues: Some people with WSS have repeated elbow subluxation, congenital cardiac abnormalities (persistent ductus arteriosus), urogenital abnormalities, skeletal abnormalities (mainly about the cervical vertebrae), and small puffy hands and feet.
What is the life expectancy of those with Wiedemann-Steiner syndrome?
There is currently no evidence that the life expectancy of individuals with Wiedemann-Steiner syndrome (WSS) is less than the average population. Due to the paucity of data available, the most frequent cause of death or long-term complications and risks are unknown.
However, many people have an underdeveloped and poor immune system. Evidence suggests that WSS children experience far more medical procedures and surgeries during the first few years of life than most of the population.
SLIDESHOW
Parenting Guide: Healthy Eating for Kids See SlideshowHow is Wiedemann-Steiner syndrome diagnosed?
The diagnosis is made considering the typical clinical symptom constellation and genetic testing.
Unfortunately, there is limited diagnostic screening when the child is in the mother’s womb. The standard screening tests during pregnancy cannot diagnose Wiedemann-Steiner syndrome (WSS). In addition, baseline genetics diagnostic tests conducted after birth do not include testing for WSS.
Whole exome sequencing is used to identify most people with WSS. However, it is not practical in many cases because the cost is not covered by insurance or requires a hefty copay.
How is Wiedemann-Steiner syndrome managed?
Currently, there is no specific treatment for the Wiedemann-Steiner syndrome (WSS). Those affected are managed symptomatically with a team approach. The team consists of:
- a counselor,
- a psychiatrist,
- an orthopedic,
- a pediatrician,
- a pediatric surgeon, and
- a physical, occupational, and speech therapist.
Some studies suggest that hippotherapy (horse riding as a therapy to develop muscle tone, coordination, and balance) and music therapy may help those with WSS. The schooling experience can be improved with special educational programs and trained instructors.
Health News
- Kids With ADHD, Behavior Issues Have Poorer Trajectories as Adults
- Women's Gymnastics Brings High Risk for Concussion
- Longer Breastfeeding in Infancy, Better School Grades for Kids?
- Gene-Targeted Drug Tagrisso Cuts Death Rate in Half for Patients With Early-Stage Lung Cancer
- As Medical Debt Rises, So Do Cancer Death Rates
More Health News »
Health Solutions From Our Sponsors
Wiedemann-Steiner syndrome. http://www.wssfoundation.org/wiedemann-steiner-syndrome/
Wiedemann-Steiner syndrome. https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome/diagnosis
Top Is Wiedemann-Steiner Syndrome Hereditary Related Articles
Baby Starting Solids
These nutritious foods are great for your baby's first year, and include cereal and baby food. Our experts offer tips on starting solid foods with your baby.
Baby's 1st Yr Slideshow
What developmental milestones can you expect to see during baby's first year? Find out when babies learn to smile, laugh, crawl, and talk.
Breastfeeding (and Formula Feeding)
It's important to know whether you will breastfeed or bottle-feed your baby prior to delivery, as the breasts' ability to produce milk diminishes soon after childbirth without the stimulation of breastfeeding. Breast milk is easily digested by babies and contains infection-fighting antibodies and cholesterol, which promotes brain growth. Formula-fed babies actually need to eat somewhat less often since formula is less readily digested by the baby than human milk. This article explores the advantages and disadvantages of both forms of feeding.
What Are the Do's and Don'ts For a Newborn Baby?
First-time parents caring for a newborn baby? Learn what to do and what not to do for your brand new child.
Genetic Diseases
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
11 Surprising Things Your Genes Say About You
Explore what role DNA plays in your health, love life, and more in this WebMD slideshow.
Nature vs. Nurture Theory (Genes vs. Environment)
In the nature vs. nurture debate, "nature" represents our genetic makeup. These are the genes you have inherited from your biological family, and that may affect your physical and mental health, for example, intelligence, disease, and psychological health. While "nurture" represents how our environment affects our intelligence, traits, personality, and mental and physical health. Studies have shown that a person's environment can alter his or her genes, and lower their risk of developing certain inherited diseases, conditions, and mental illnesses that run in his or her family.
Researchers and doctors have found that particular physical traits like eye and skin color, and diseases like Huntington's chorea are the result of genetic inheritance (inherited from a family member). However, patterns of thinking and behavior can be attributed to both nature and nurture (your genes and your environment). Moreover, researchers who study the brain have found overwhelming evidence that a person's genetic factors and his or her experiences guide and support brain development. The human brain produces new nerve cells (neurons) into adulthood, and these nerve cells can change the strength of their connections throughout life, which can affect intelligence and other factors.
What Can a Baby Do at 3 Months?
Your 3-month-old baby has made tremendous development since birth. Babies who are 3 months of age have achieved developmental milestones in moving, speaking, interacting, thinking, sensing, and sleeping.
What Does a 2-Month-Old Baby Do?
After 2 months of age, your baby moves past the newborn stage and they experience many changes. A 2-month-old baby experiences advances in motor skills, eating, sleeping, communication, and in their senses.
What Is the Life Expectancy of Someone With Coffin-Siris Syndrome?
Coffin-Siris syndrome (CSS) is a rare hereditary condition noticeable from birth (congenital). Most people with Coffin-Siris syndrome (CSS) live relatively long lives. The lifespan of affected individuals varies widely depending on the person’s level of physical and mental development and the severity of the illness. Medical care increases the quality of life and lifetime of people with CSS.
What Should a 10-Month-Old Baby Be Doing?
A 10-month-old baby is highly active. At 10 months old, your baby should crawl up steps, hold your hand, climb onto chairs, understand simple sentences, show interest in conversations, imitate people, and do many other things.
What Should a 4-Month-Old Baby Be Doing?
Growth at 4 months is so intense that babies often regress in other areas. At 4 months old, babies advance developmentally in gross motor skills, fine motor skills, communication and hearing, problem solving, learning, understanding, socially and emotionally.
What Should I Do if My Baby Doesn't Want to Eat?
A baby not wanting to eat is typical behavior. If your baby doesn't want to eat, try different feeding positions, wear clothing that allows for easy access to the breasts, maintain your milk supply, and offer the breast often.
When Should a Baby Stop Using a Bottle?
Toddlers can become attached to their bottles because it provides a sense of comfort and security in addition to providing nourishment. A baby should stop using a bottle when they can sit up by themselves, eat from a spoon, show curiosity in solid foods and when they have a set routine for mealtimes.