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.
How 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.
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Wiedemann-Steiner syndrome. http://www.wssfoundation.org/wiedemann-steiner-syndrome/
Wiedemann-Steiner syndrome. https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome/diagnosis
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