About Wiedemann Steiner Syndrome

Wiedemann-Steiner syndrome is a rare genetic disorder which can cause developmental delay, feeding challenges, short stature, and low muscle tone.

It is inherited in an autosomal dominant fashion, which means that typically neither the mother nor the father will carry the syndrome in their genes.  Rather, the syndrome develops because of a spontaneous genetic mutation in the fertilized embryo that becomes the child.

Wiedemann-Steiner syndrome  results from a mutation in the MLL (also known as KMT2A) gene on the long arm of chromosome 11 .  KMT2A is a histone-modification enzyme, meaning that it helps modify the expression of other genes.  So children who are missing this histone-modification enzyme in development will carry a number of resulting symptoms.

The syndrome was originally described by Wiedemann in 1989.

Children with WSS will often display some of the following: long eyelashes, developmental delays, hairy arms close to the elbow, hypotonia, motor delays, unusual facial features (dysmorphism), feeding challenges, and a high arched palate.

With the advent of whole exome sequencing, there are now more children being diagnosed with milder forms of this syndrome.  This means that rather than demonstrating severe symptoms clinically, they may be demonstrating some subset of the symptoms to a lesser degree.

Click here to read about Wiedemann-Steiner syndrome at Wikipedia.

Click here to read about Wiedemann-Steiner syndrome at OMIM (Online Mendelian Inheritance in Man), a site of the Johns Hopkins University.

[Please note that this is a site built by parents, not doctors.  Any medical information on this site is not to be taken as a diagnosis or cure and you should consult with a doctor about your situation and any therapies.]

39 thoughts on “About Wiedemann Steiner Syndrome”

  1. Our sun Koen had in november 2013 whole exome sequencing, and is diagnosed with WSS. He is 22 years old now. (born 24-8-1993) I will like to get more information and like to join the parents group by mail.

    Yours sinserely,
    Mirjan and Martin Morsink
    De Karekiet 29,
    7591 JG Denekamp, the Netherlands.
    mail: mirjan1966@hotmail.com

    1. Hi

      My son has suspected WSS after a visit to the geneticist awaiting her decision. There is no info anywhere. My son is 3yrs and I don’t know of the problrms he will experience as he grows.
      Any advice would be greatly appreciated x
      Paulquinn450@msn.com

  2. Hi my name is Norna Melsop of 10lyndon crescent donnybrook Douglas Co Cork Ireland. My daughter who is 13was diagnosed on2010 with .wiedemann Steiner syndrome. It would be great to get some more information if any on it as I don’t know of any other child with it in .Cork or Ireland .

    1. Hi norna my name is Nicole I live in Wicklow and my daughter is 10 and was diagnosed last year with wss I just started looking on this site tonight I felt the same didn’t think there was any one in Ireland with this either

      1. Hi Nicole. Sorry but I only saw your message if you like to email me on nmelsop@live.com or faceboke me you can . Norna is 16 she go’s to st Gabriel’s special need s school in bishopstown here in cork. She is non verbal double incontinence moblie problem s epilepsy and asthma has behaviour issues and some more issues .She is the youngest of five the next to her is 26 .

  3. Hi, I had had left a message asking how my wife and I can join the group (our son was diagnosed with WSS) if you can please let us know.
    Many thanks
    Effy

    1. Hi Effy, I just saw your comments on here and wanted to reach out. Our daughter is 4 yrs old and was diagnosed with in March of 2014. We have a mom and dad’s of WSS children facebook group that I would encourage you to join: https://www.facebook.com/groups/667174239987278/. The group is a tremendous resource. We often find out more from one another than the medical community. I look forward to hearing back from you. -Libby Wooford

  4. Tengo un hijo que recientemente me han dicho que está afectado por este síndrome. Estoy muy perdida y me gustaría tener más información al respecto. No se donde encontrar información de lo que le espera a mi hijo. Si me pudieran ayudar se lo agradecería.

    Translation: “I have a son who has recently been told that he is affected by this syndrome. I am very lost and I would like to have more information about it. I do not know where to find information about what is waiting for my son. If you could help me I would appreciate it.”

  5. Hello
    My name isMarie Wills
    In 1991 I gave birth to my son Adam he was beautiful but something wasn’t right. Adam had WSS no one know what it was until 3 years ago.
    I was told he had a syndrome but that was it. It was hard to bring him up not knowing so I’m so pleased Doctors know what it is now.
    Adam is doing well he’s 25 now he passed his driving test 2 years ago and now he’s a taxi driver which he loves.
    He went to mainstream school because he wanted to, he passed his exams only just but he did pass.
    He’s a loving caring person a little slow but he gets there.
    I’m writing this because if someone has just found out there little one has WSS not worry they will be ok, I wish someone could of told me that in the beginning its hard but he’s worth it.
    Marie Wills

    1. I just had a wee tear in my eye reading that. All I want for my boy is to know he will get a chance at a normal life. Thank you for giving me hope x

    2. We have a 6 year old son and have just spotted the WSS. Your message gives us hope to get our son forward. We would like to know if there is any association or any page with guidelines to treat our child. His story has ennobled us

      A hug from Spain

    3. This is amazing to hear! My son was just finally diagnosed after 8 long years of testing after testing… I’ve been very worried about what the future might hold…. thank you

    4. Hello , my son is 7 years old, a year ago we just knew that he got also WSS , he goes to a normal school but he has a shadow teacher, he is doing just fine but ino the mathematics we still have a huge prob because as u know the mathematic is the logic, sometimes i panic and at the end i always say that maybe i should give him just timw, who knows what could happen in the future, we are from lebanon midle east, honnestly when i read ur message i felt like that kind of pressure that i am carring with me goes away a little bit, hopefully ur child will b ok always dear, good luck

    5. This is really helpful and relived me knowing that my son who just diagnosed with this syndrome can have a normal life.he is just 4 years and having some delays in his development.

    6. Nice to hear a everything will be ok I have a 3 year old nephew that I just found out about his WSS diagnosis and it gives me a piece of mind for my brother and sister in law Thank you ….

    7. Thank u, this was so Nice to read.
      My daughter who is soon 9 years old has WSS, and i am very worried about her future.
      This was so good to hear that he has a drivers license and a job! Well done 🙂

    8. Not everyone with this syndrome is as independent as your son. My niece can’t talk or take care of herself at all and she’s 14. She’s a real delight but has had many challenges in the past and will continue to have them as she ages. She will never be able to have a job, let alone drive. I’m happy for your son.

  6. We just received our diagnosis today after 12 years of searching. My little man is nearly 14 years old. He has a moderate mutation whatever that means. Like Marie Wills, we went on for years being told it was a syndrome but we just dont know which one yet. We only restarted genetic testing this year and at our 1st appointment Ethan’s geneticist said she thinks she knows and today we got our answer. I am still in shock but so relieved to finally have a name. I cant wait to connect with other families.

  7. My niece has been recently diagnosed after 24 years of not know what she had. Our family are looking for advice and want to share our experiences along the way with your their families.

  8. Good job with your website. I have a patient with WSS and have pointed the family in this direction. You all are the real experts. Keep reaching out to each other and especially to families newly diagnosed.

  9. hi
    our 12 year old daughter was just just given the diagnosis and am looking to find information and other families in toronto.
    kay

    1. Hi Kay. I was just reading through these comments and saw your post. My 13 year old son was recently diagnosed. We’re in Toronto. Please feel free to contact me: 416-882-5138.
      Janine

        1. I’m so glad you replied! Is the weekend a good time to call you? Unfortunately, I’m not going to the conference. Are you?
          Janine

  10. Our son Jonathan is now 13 and was diagnosed a few years ago. We live in Hampshire He is at a special school that specialised in speech and language difficulties . He struggles with social interaction and the constant chatter of his three sisters!

  11. My son was just diagnosed yesterday after 9 yrs of struggling for answers. I am scared but it means a lot to read these other stories. Thank You all

    1. Yes we didn’t find out until he was about 9 . Jonny is now 13.. very hard when you can’t explain it at all ..

      Roger

  12. Hello,

    I have been trying to find a page like this for a while! I am a carer to two people with WSS! I thought maybe some people here would like to know my experience.

    The people I look after are father and daughter and both have WSS. The father got married, had a job and then one daughter who also has been recently diagnosed with WSS at the age of 23. She attended special school and does need help with some parts of daily life but she’s happy and has her own hobbies. The father was very independent growing up – living with his wife and child etc.

    I hope this can give some of you hope that there is a chance of a fulfilling life for those you love who have been diagnosed.

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