Leri Weill Dyschondrosteosis is a type of dysplasia associated with Madelung deformity. Madelung’s deformity is an abnormality of the wrist caused by a growth disturbance that retards the development of the ulnar and volar portions of the distal radial physis.
The eponym gives credit to Otto W. Madelung, who described this entity. Carpus curvus, radius curvus, and progressive subluxation of the wrist, manus valgus, and manus furca are other terms used for this condition.
The primary deformity is bowing of the distal end of the radius, which is the most typical form curves in a volar direction while the ulna continues to grow in a straight line. The distal ends of the radius and ulna are at different levels in the lateral plane. That of the ulna has maintained its original normal position, while that of the radius has curved down to a volar level.
Leri Weill Dyschondrosteosis is a form of mesomelic dwarfism and was first described by Leri and Weill in 1929. Leri Weill dyschondrosteosis is characterized by
- Variable short stature
- Short forearms,
- Tibial/fibular shortening.
The height of these patients is usually is less than the 25th percentile. The features become more pronounced clinically during adolescence.
No other abnormalities are commonly associated.
Forearm shortening is bilateral and appears almost identical to that in primary MD. One of the differentiating features is that the proximal radius is involved in patients with Leri Weill dyschondrosteosis whereas it is not involved in primary Madelung deformity.
Both dyschondrosteosis and Madelung deformity are transmitted in an autosomal dominant fashion and the diseases are more predominant in females.
This condition needs to be differentiated in case of bilateral Madelung deformity. Many children with unilateral and bilateral Madelung deformity have normal stature and no other characteristic of dyschondrosteosis.
It appears that while they may be related but are separate entities. In primary Madelung deformity without Leri Weill dyschondrosteosis the height of the child is above the 25th percentile in height and there would be no family history of dyschondrosteosis.
A patient who is less than 5 feet tall at skeletal maturity with the involvement of the proximal radius with a relatively short tibia and fibula is likely to have Leri Weill dyschondrosteosis.
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donna says
January 12, 2010 at 4:15 amMy daughter , 13, gymnast was diagnosed with Madelung's deformity.
The bone is sticking out and you can move and push on it and it pushes down and up.
She pounds on the wrist with gymnastics as she is a high level competitor.
Can you tell me if you know a doctor who specializes in this? We are meeting wonderful
hand surgeons' but they don't know much about it and have not performed any surgery for it.
I want the guru guy/gal that knows this deformity any help would be appreciated.
thanks
Dr Arun Pal Singh says
January 12, 2010 at 3:33 pm@donna,
It would help if you specify your location or area you are in.
May be then some body in this thread may help you.
Anna Newman says
August 15, 2010 at 7:40 pmI am a 36 year old female with bi- lateral madelung deformity. I am 5'9" how ever was diagnosed with lerri- wills disconderosis around age 18-19. This didn't make sense to me even then. I have since I think more correctly been diagnosed with Ehlers Danlos hypermobile. After having 3 strokes in nov '08 it's is now thought I have some sort of vascular / hypermobile hybrid of some kind. In the last year or so I have developed an excruciating left hip problem. I was told it was a femoral (a ) hip impingement. Could this be an extending of the SHOX gene. Or part of a disconderosis even though I'm relatively tall. I know some forms of dwarfism have sevear hip problems. The surgons in Dallas are scared to touch me and although I have had chronic pain since about age 12, I must find an answer for this hip. It has me in a wheel chair for more than very short trips, and almost house bound. I know this combo of problems is almost totally unique. And I have had to do much of the the research personally all my life to get care. And of course have many secondary issues that complicate matter even further. I can theroize on this but have no way to find the answer and looking for some help.
Thank you for anything you may have to offer
Sinserally
Anna
Anna
Dr Arun Pal Singh says
August 29, 2010 at 3:08 am@Anna Newman,
How Can I Help You? I cannot advise you as physician because that would need a physical meeting and examination.
If you want information on any other aspect, you would need to be specific.
katy says
April 12, 2011 at 4:08 pmI have both madelungs and leir weil dischondrosteosis and mesomelic dwarfism. I am having excruciating pain in my hands and wrists, but cannot find a dr that knows anything about the deformity. I live in Idaho and have been to dr's in several city's all of which just think i'm making it up, but if i go to the emergency room I have to read my own xrays because they assume dislocation every time. not sure what to tell the docs when i go in so they will at least examine and help with pt or rx relief…preferably pt.
louise brown says
August 22, 2011 at 1:49 ammy daughter is 11 years old she has leir weil dischondrosteosis. she suffers from alot of pain in her joints espeically in her knees. she also gets alot of lower back pain. I dont know much about the condition i was just wondering wether this condition gets worse has she will get older. and also is it known that childeren who have this conditon suffer from learning problems too? Rhiannon is below average in maths and english and struggles with learning.
i hope to hear from you soon
any information would be great thank you
Dr Arun Pal Singh says
September 5, 2011 at 7:22 pm@louise brown,
I would suggest you to take her to a specialist who can evaluate her. The worsening is definitely a factor as the growth occurs but how much cannot be answered in advance.
Jaime says
April 1, 2015 at 5:07 pmMy 10 month old daughter has leri weill, she is under the 5th percentile in growth ad has been since birth. She is currently the same size as the average 6 month old. We are waiting for once she is walking for the orthopedic surgeons to decide whether she will need surgery to correct bowing of her legs. Is there any specialist for shox gene mutations in australia? As this is where I live, my partner, his brother and father all have leri weill but my daughter is the first female with it in the family and I’ve been told symptoms are worse for females.
Thankyou