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.]

46 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

    2. הייי הבן שלנו אובחן במחלה wss רצינו להצטרף אי רציינו לשאול מאיפו אתם האם ידוע על ישראלים הנגועים במחלה ולשמוע עוד על דרכי התמודדות במחלה
      תודה רבה
      e-mail: raceli791@gmail.com

  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.

  13. I am a teacher of a student with WSS. I have worked with him for 2 1/2 Years. Something I have noticed is his lack of emotion himself; he has been taught to recognize others like, “I can tell you are frustrated with me. I forget.” He has a gift of language-knows 5, with English as the most prominent one. He cannot master 5th grade math. He is 18.
    My question is about jobs he might do.
    Wondering,
    BB

  14. Hello,

    I recently got results back that my 17 month old son has WSS. I’m doing my best to research, but I’m wondering if anyone can tell me more about the scale of severity? My son has some of the features and has been delayed with some milestones, but overall seems to be on the mild side.

  15. Good afternoon everyone. My son Jacob is 11 years old this year. He was a natural birth, although premature and very strange looking (hairy face) he very quickly became a bouncing, blue-eyed gorgeous baby, until he got to around 10 months old. I came in from work one day and Jacob was sat on the lounge floor with some toys. I noticed he was not moving and his gaze was almost fixed, he was conscious, no temperature however looked as though he had had a stroke.
    He was hospitalised for some time (6 weeks) many tests, he was eventually diagnosed as having had an infarct of his pituitary gland and was not producing growth hormone and has to have daily injection of growth hormone, he remains very small compared to his younger brother. As he developed (slowly) he had problems with his teeth and still does. He has had to have a lot of teeth extracted and now awaits thye development of his second teeth at the front (no signs as yet but hopeful). His eyelashes are very long , he has tear drop eyes, which can wander around his eye socket and the pupils on occasion disappear behind his eye sockets, so you only seethe whites of his eyes.. He also has dyspraxia, and is unable to manipulate utensils at times for example he cannot make a sandwich as the process of buttering bread is impossible for him to coordinate. He cannot grasp the skill of cleaning his bum after going to the toilet, he tries however he looks like a handcuffed crab while he is trying (it upsets him) He has a significant issue with constipation and can wait two weeks without going to the toilet, when he does omg, call the drain doctor. The constipation was so severe it affected his kidneys about four years ago. The medication to help him go to the toilet has helped a lot. At school he is an angel and very well liked by all, the bully’s pick on him most times he doesn’t even notice. He is wonderful with other children and reads to younger children in classes below him to help them and in reads above him to show the low achievers that they can do it
    Jacob gets tired very easily and cannot run effectively, tears were shed when he was at the school sports day and in a running competition, he was lapped many times, but kept going a teacher went to his aid and ran slowly with him until the race was over, Jacob was so pleased he finished the race. Oh I forgot to mention the squeaky voice, which makes him stand out in situations, he had an operation to try to rectify it (didn’t work) if your child has WSS don’t put them through that operation. Jacob is very confident when out and about he will introduce himself to anyone and strike up a conversation, he is funny sort of cheeky in a nice way and loved by all.

    Now at home the picture changes, the angel’s metamorphosis’s is complete within minutes to a very aggressive, assaultive, rude, abusive and hostile little boy. The violence can be extreme, trying to push your teenage sister down the stairs, using items as weapons to injure his brothers and sisters. Using weapons to break things (televisions) opening and slamming doors to the point they break. The attacks on the four young children are enduring , unpredictable, sustained and could end up with serious injuries..Jacob is small but very powerful and has no fear and no understanding of the consequences. His diagnosis was received today, I note there is nothing with regards to the behavioural signs of the syndrome as yet and his condidtion may have been affected by whatever ABI happened when he was around 10 months old. One last thing his mood changes when he sees his mum, he becomes chilled, kissy kissy, lovey

  16. Hello Allison,
    I noticed you introduced yourself back in early January of this year and nobody acknowledged you. My name is Carla and I support people with developmental delays. I am meeting a 19 year old man this afternoon with WSS as his father needs support so he can work. Is there any advice that you can give me Allison on how to best meet this young mans needs and connect with him?

    Thank you,
    Carla

  17. My 8yr. old daughter has just now been diagnosed with WSS, today. I have not ever heard of this before, but was told that it’s fairly new. I need to know everything I can about it….

  18. Me and My 2nd daughter just have been diagnosed with WSS. it explaines her developmental delay, epilepsy, learning disabilitys, failure to thrive, short statue, etc..
    i just have a short statue ( 155 cm), and was also very skinny in my younger years. and had epilepsy too, from my 4th until my 8yh years old. I did well on Depakote then. She also did well on Depakote ( and Keppra)
    She got it from me, in a autosomal dominant heritage.
    we’re gonna have grandma also tested, and our 2 other daughters, to find out if it started wit me ( de Novo mutation) , or if i inherited it also.
    i am 47, my daughter is 17 now..
    i hope to find answers by joining this network, and hopefully help others too.

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