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What is the prevalence of Wiedemann-Steiner Syndrome?

How many people does Wiedemann-Steiner Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Wiedemann-Steiner Syndrome

Wiedemann-Steiner Syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. The exact prevalence of this syndrome is not well-established, but it is considered to be extremely rare. Due to its rarity, there is limited data available regarding its prevalence in the general population. Diagnosis of Wiedemann-Steiner Syndrome is typically made through genetic testing and clinical evaluation. It is important for individuals suspected of having this syndrome to consult with healthcare professionals for accurate diagnosis and appropriate management.



Wiedemann-Steiner Syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. It was first described in 1989 and since then, only a limited number of cases have been reported in medical literature.


The prevalence of Wiedemann-Steiner Syndrome is currently unknown, as it is considered an extremely rare condition. Due to its rarity, it is challenging to determine the exact number of individuals affected worldwide. However, it is estimated to occur in less than 1 in 1,000,000 individuals.


Wiedemann-Steiner Syndrome is typically caused by mutations in the KMT2A gene, which plays a role in regulating gene expression. The syndrome is characterized by distinctive facial features, developmental delays, intellectual disability, short stature, and skeletal abnormalities.


As with many rare disorders, early diagnosis and appropriate medical management are crucial for individuals with Wiedemann-Steiner Syndrome. Genetic counseling and support services can also be beneficial for affected individuals and their families.


Diseasemaps
2 answers
Only a few hundred people have been documented with the condition worldwide. Once thought to have an incidence of 1 in 1,000,000, some research has suggested the incidence may be as high as 1 in 40,000.
Both males and females may be born with the condition.

Posted Jan 16, 2018 by anonymous 3980

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Wiedemann-Steiner Syndrome stories
Our daughter was diagnosed (I think 2014) aged 8. We knew Evie had some sort of syndrome when she was born in 2006. Initially the geneticists thought it was Cornelia de lange syndrome then she got the diagnosis a few years ago. 
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Our son Finn (6) was diagnosed with WSS in May 2014.
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Gus was diagnosed with Wiedemann-Steiner syndrome in July 2017, just shy of his 3rd birthday. Here is our story... "Please don't shoot the messenger, but...can we talk?" I will never forget this day. Gus was 8 months old, and I had just arrived...
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My son, Tatum was diagnosed in January or February, 2016. He is 3!
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Emma was a scheduled cesarean section on 7/9/12 at Women & Infants in Providence at 39 weeks and 3 days following an uneventful pregnancy. She immediately showed difficulty breathing and was brought to the NICU where she was diagnosed with PPHN. Over...

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