ABOUT WSS
Genetics
WiedemannβSteiner syndrome results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. This gene helps modify the expression of other genes. The condition is autosomal dominant.
This means that only one abnormal copy of the gene is needed for a person to have the syndrome. In many cases to date, the mutation occurred de novo (sporadically) and not inherited by either parent.
There is a 50% chance that an individual with WSS will pass this mutation onto their offspring.
What We Know.
Outcomes.
Developmental outcomes in children with WSS are widely variable, often resulting in significant developmental delays.
Incidence.
The incidence of WSS is about 1,000 world wide. The incidence is likely much higher, but without awareness and diagnostic tools readily available, many people have likely been misdiagnosed or go undiagnosed for many years.
Treatment.
There is no specific treatment or cure for WSS. Treatment options that have shown to be beneficial to date include supportive treatment such as speech, music, physical, occupational, and hippo therapy, as well as on-on-one aids. Special education and additional support have also had a positive impact.
This is a rare genetic disorder characterized by:
Developmental Delays
Mild to Moderate Intellectual Disability
Gastrointestinal Issues
Structural Cardiac Anomalies
Thin or Absent Corpus Callous
Unique Facial Features:
Thick Eyebrows, Long Eye Lashes, Hypertelerism, Wide Nasal Bridge
Feeding Difficulties
Hypotonia (Low Muscle Tone)
Dental Issues
Behavioral Issues
Hairy Elbows
GHD (Growth Hormone Deficiency)
Short Stature
I N T O T H E U N K N O W N
In many cases, due to the lack of research and limited number of people affected, people have only anecdotal experience to rely upon as a benchmark for a prognosis.
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