Dyschondrosteosis and Madelung Wrist Deformity ( 2001 )
Personal stories concerning MWD / DCS submitted to this
site in year 2001
L in Sweden in email contact with [ CL ] DCS+MWD
I (female 2001)have
dyschondrosteosis (Leri Weill syndrome). As far as I know I'm the only one in my
family that have been diagnosed with this condition, although my mother has been
diagnosed with Madelung. She probably has LWD, since Madelung it self isn't
hereditary. The syndrome is visible equally in my arms and legs. At the age of
7, my parents were worried about me being so short compared to my friends (I'm
now 147 cm), I was then preliminary diagnosed with this disease. Nothing was
done about it that back then though. At the age of 12, in the mid 1980's, the
diagnosis was confirmed by another doctor (an orthopedic surgeon). That same
year I had surgery on my left leg - Blount merles were put in to stop the
growing of the tibia (just below the knee), a year later the same procedure was
performed on my right leg. The merles were taken out one and a half year after
the second procedure. At the age of 20 I had surgery on my right wrist - a
denervation, nerve fibers where cut of in five places in order for me to get
pain-relief - the effect lasted about two and a half to three years. I get a lot
of pain in my wrists when I carry heavy things, especially when I have to turn
to be able to carry something, like a tray for example - I basically try to
avoid lifting things that weigh more than 1,5 kilos and by doing that I avoid
getting so much pain. Typing is difficult, but thanks to a "forearm support" I
can type for longer than 5 minutes without getting strong pain. Writing in the
old fashioned way is also strenuous, resting the wrists now and then solves
that. I don't visit my doctor (a hand specialist) on a regular basis since the
only thing left is to perform an arthrodeses, which is not of current interest
since I'm not showing any signs of arthrosis. In May 2000 I took part in a study
and was then measured (arms, legs, my full length a nd so on) and left blood to
be tested. Anyone who is interested in contacting me, can reach me through the
group.
R in UK (also in Hampshire) telephone call only
Numerous generations
with MWD and DCS in different countries including South Africa. She is
participating (2001)with other of her family in genetic testing with a hospital
facility in Manchester. In a personal anecdote she referrred to the conditions
making it awkward to put on and take off wet suits. No one in her family has
pain associated with their form of DCS / MWD
C in the Essex,UK in e-mail contact with
I have been looking for
information ever since I was diagnosed at 17 and I have always wanted to hear
other people’s stories so I was pleased to find the site on the net. I was
diagnosed by my local doctors who took three weeks to come up with an answer,
the only reason I went was because of the pain and shape of my wrists. The next
step was to be referred to a hand specialist at The Royal National Orthopaedic
Hospital in London, and there it was decided to operate on my right wrist as
this was more deformed than the left wrist. I am 23 now (2001) and I have had
three operations, two on my right wrist and one on my left, I am currently
waiting for another operation date on my left hand. My last visit to see my
consultant he told me that arthritis had set in some of the bones in my left
hand, causing some of the pain I suffer from. I have talked with my consultant
about fusion of the bones, there are advantages - should remove the pain, but
there are also disadvantages - limited movement which could limit me doing
various things, I do not feel ready to have this done and this would be a last
resort. My wrists, even though I have had surgery carried out which has been
successful but has not given me normal working arms, are still very painful, I
can’t explain the pain sometime it is so bad I just don’t know what to do with
myself. Positive outcomes from my operations are more movement in the wrist and
my hands are in line with my arms. I have arm splints that I wear at night,
these rest the bones in one place (to try and ease the pain). I also find I get
back-ache but this is caused by the way I use my arms when sitting, so sitting
correctly is very important. Things I find help me are to keep both arms warm,
relaxing them in warm water, using a wrist rest when typing and writing. The
type of job I do probably doesn’t help my wrists, I work in an accounts
department which involves a lot of typing and writing. I find I can’t play
sports like tennis as this jars my wrists, I do have problems with carrying
objects, such as pouring the kettle and when I passed my test to drive I had to
purchase a car with power steering. I am also diabetic (diagnosed at 7) and
looking back into the family history no member has had either complaint. I will
be very interested in talking to other people who have Madelungs and reading
your article has been very helpful.
From M in the UK,currently (2001) [ CL ] MWD
Dear Nigel, I found your
website on Madelung Deformity very interesting and I am writing to add my
experience to the others. I am a 30 year old Italian woman who was first
diagnosed Madelung at the age of 10-11. My parents noticed that my wrists were
oddly shaped and took me to an orthopedic who recognised the problem. I have
been to Moscow where I was visited by Prof. Ilizarov . who however did not think
it necessary to operate on my arms. {Editorial note -Madelung deformity treated
with ilizarove technique is reported in the medical Journal of Hand Surgery
,2001 and also a link to an Ilizarov site in the list of links at the end of
this file} Talking about my condition has always been a taboo in my family. No
one else is affected and they all took it as a bit of a shock. It has caused me
great psychological problems, mainly to do with the aesthetic appearance of my
arms. It means that I never wear short-sleeved tops and that I am very
self-conscious about it. It also means that I can't carry anything too heavy
although I often end up doing it. I remember having sharp pain in my wrist when
I was younger but they seem to have gone, until recently. I woke up a few weeks
ago with a pain in my right wrist which I thought was due to the fact the I had
slept on it. The pain stayed for a couple of weeks and as a result I now cannot
carry anything heavy with my right arm - which used to be my better one. It has
suddenly made me feel disabled. I also have problems driving. I drive in Italy
as my right arm is slightly longer and can reach the gearstick but couldn't in
England - which is where I curently live - because the gearstick is on the left
hand side. I know very very little about this condition and I have recenly been
to see a geneticist to ask about the implications of having children - I was
told there is a 50% chance of passing this on. I have so many questions: what is
the worst form of Madelung? Does it affect the legs as well as arms? are there
any ante-natal tests one can do to establish whether the baby would be affected?
what kind of problems am I likely to have in my life? Does it get worse? do you
know of a good orthopedic in the UK whom I could go and see? I would appreciate
your reply. Many thanks again. Kind regards, M
followup November 2002
I
have just returned from Italy where I saw an expert in genetics who is very
familiar with Madelung. He took a blood sample from me and is doing a DNA test
of which I do not have the results yet. However the main point is that he said
if I was to get pregnant he could do a test to establish whether the baby would
be affected by Madelung, in order to enable me to decide whether to carry on
with the pregnancy. I appreciate that this is a sensitive topic for many people
but I thought it would be useful to those who are thinking of having children
and worried about passing on the gene.
From S in the USA in e-m contact with [ CL ] MWD
Hi I have just read a
small portion of your articles and I too have Madelungs Deformity. I am now a 35
year old female in the year 2001. I was diagnosed at the age of 13. I have it on
both wrists and since my parents did not know what it was, I was operated
immediately since it was more prevalent in my left wrist (I am lefty). Well, I
do not remember what kind of procedure the Doctor performed on me, all I
remember was that both my ulnar and radius bones were cut and pinned together.
As a result, my wrist was bowed with 7 to 8 stitches on each side my arm, which
looked swollen and even worse then before the operation (by the way I sued the
Dr. who performed the surgery). My left hand was shorter then my right even
though you could not tell. I have limited movement in my left wrist and had low
self esteem because of it. I did not wear short sleeves shirts as a result and
always hid my wrist making it look like I was cold even though it was in the
heat of summer. Well that was 22 years ago and I have since regained my self
esteem. I am now experiencing the same pain in the right wrist as I did on the
left. I own my own online business where it is very painful when I type, write,
etc... I cannot lift heavy objects and when I sleep at night I wake up with pain
in my wrists. I would like more information on the types of pain so I can
prepare myself for the future. Thank you for this web site, I feel as I am not
alone in this.
M in Holland (friends) in e-m contact [ CL ] DCS+MWD
Hello
Nigel, My name is A2, I live in Holland and I’m writing you on behalf of a
friend of mine who has dyschondrosteosis and who asked me to look for
information on the internet. My friend M is 33 years old (2001,female) and about
1.48 meter tall. A long time ago she was diagnosed with this condition and now
she would like to learn more about it, and hear from other people suffering from
it. So we were glad to have found your website. She recognized a lot in other
people’s stories. She has a serious wrist deformity and often has pain in her
wrists, but nowadays she’s suffering most from pain in her shoulders, but
doesn’t know whether this has anything to do with it. Her mother, an aunt, and
some cousins have dyschondrosteosis too, but somehow this is not a subject that
people talk about in her family. They probably have less pain than my friend and
their condition is not that important to them. To my friend it is important. It
has quite an impact on her daily life. The deformity of her wrists is very
obvious. And in general she can hardly make any serious physical efforts because
that causes a lot of pain. This makes it hard to find a suitable job for
example. We read you are in contact with at least 2 people in Holland. My friend
would like to get in touch with them, especially because she doesn’t speak
english herself and there’s hardly any (if any at all?) written information in
dutch available. And those people in Holland will probably find it interesting
too, to hear about other people with this condition in Holland. There may be
more people suffering from it than they think. So my friend hopes those dutch
people are willing to write her. Perhaps you have their permission to give us
their e-mail addresses, or anyway, you can send them this message. They can
write to my e-mail address (my friend doesn’t have access to the internet
herself). Any information or tips how to get it is welcome. That is, if not too
scientific. I’m a librarian myself, so I could find scientific articles in
PubMed for instance, but that’s not really the kind of information she wants to
read. But there’s probably hardly any patient information. If you have useful
information or tips yourself, in english, that’s welcome too. I will translate
for her. And if you would like to know more about M’s condition you’re welcome
to write and ask. Thanks in advance and with kind regards, A2 and M
From R2 in the UK in e-m contact [ CL ] MWD
Hi Nigel So I found a fellow
madelungs sufferer. Actually, my sister has just been diagnosed officially, but
I am the one who has suffered the pain for years. She is a physio so has some
medical knowledge. I was wondering if you could tell me what tests you had to
diagnose the problem. I have had x rays but the orthopaedic consultant said he
could decipher nothing so I am waiting for a MRI scan (which my sister has had
and her consultant confirmed the condition from). We are not under the same
consultant living in different parts of - . I am 25 (2001,female) and have
suffered severely for 4 years, since a whiplash accident. My sister is 27 and
has suffered for a year since a whiplash accident! There is a pattern emerging!!
However, we both have had weak wrist joints throughout our teens. (sprains etc.)
Do you know if the pain can occur across both sides of the wrist, ie. Palm up on
the joint on both sides of the ulna and radius? Mine is radius but my sister's
is ulna. I would like to learn a little more about your help group as I suffer
terribly and perhaps others can give me some ideas of relief without the
operation.
Thanks R
From T in Canada in e-m contact [ CL ] MWD
Hi Nigel, Thank you for
providing all the information on Madelung's Deformity. As well as allowing us to
contact you through e-mail. I have a question to ask of you & I hope you may
be able to provide me with some help. I am a 38 year old male & both my
wrists are deformed. I was finally diagnosed with Madelung's just a couple of
days ago {June 2001}. I was wondering if this is hereditary & can it be
passed on to my children? The genealogist seems to think this was a fluke
situation that happened to me because I am the only sibling in a family of five
to have this problem. My mother & father show no signs as well as numerous
cousins. I am very grateful to finally find out about this MWD condition, as I
have been wondering for a long time what the name of this condition was &
also getting tired of explaning what happened to my wrists. I have only slight
problems with my wrists such as limited mobility, small forearm & noticable
lump at my wrists. Thank you,T
From L in Canada in e-m contact
I have Madelungs Deformity; I live in -
- and have had nothing but Doctors slam doors in my face.I am 27 years old, in
2001 (female). I have fought doctors since I was 15 years old. When I was 15, I
wanted My wrists fixed. I didn't look normal; my forearm was short with
pronounced wrist bones. My doctor told me that is normal and there was nothing
he could do about it. Females 1 in 10 usually have this. My parents sloughed it
off and never persued it any further. I was 19 when my baby's doctor noticed my
arms where very unusual. He aked if I would mind him doing x-rays; just for his
curiosity. I did because this problem has bothered me so deeply. (teased,pain,
etc.) He then told me; I had Madelungs Deformity. I then saw a plastic surgeon
who did nothing. Then a specialist in London and he did nothing. I have major
pain in my wrists and it worsens with age. I finally found an orthopaedic surgon
who wants to help. He is fascinated because he has never had a real live case of
this deformity; he only has seen it on exams. He may send me to - or - for
surgery. I have never met anyone with this condition. I am happy they want to
stop the pain because I have taken celebrex and pain killers to help ease the
pain. I also have gone to physio-therapy and it seems to make it worse. I am
working but have changed numerous jobs because of pain and motion on my wrists.
Is there any help for me. Thank-you for your wonderful site, I feel less
alone.
From D2 in e-m contact
I am writing as I was diagnosed w/ Madelung's
Deformity w/ Degenerative Arthritis when I was 15 yrs old. It's hard to obtain
information about this condition as it is rare. My personal case was diagnosed
as congenital. I am now 37 yrs old and have had surgery on the right wrist as I
am right handed. I am becoming very concerned as I had one doctor tell me that
mine was an overall skeletal condition and over the last few years my lower
back, knees,neck, etc. have started showing signs of degeneration. I do know
that no matter what any doctor says each case is individual. They(doctors) don't
really understand this condition, at least the ones I've had to deal with don't.
Any feed back would be nice.
From C3 in the USA in e-m contact [ CL ] DCS+MWD
Hi, Your website is
great, I could hardly believe that there are other people out there with this
type of condition. My mother had taken me as a child to the - hospital in - ; it
was there that I was seen by various doctors, photographed from head to toe, and
x-rayed. I am 24 now (2001,female) and don't remember if I was diagnosed with
Madelung's, but with the information and pictures in your website, I believe
this is what I have. My mother has the same problem, and in a family of seven, I
am the only one who developed this problem. I was measured and told that my
forearms and legs are shorter than usual, and that I have limited range of
motion in my wrists. I was always embarrassed about my wrists and having
"popeye" arms. I often wore wristbands during school sports, watches and
bracelets to hide my wrists. I don't really worry about the aesthetic appearance
now, but the probability of passing this on to my children. I would hate for
them to grow up, constantly hiding their wrists from others, explaining their
deformity, or being made fun of. As for the pain, it doesn't hurt constantly,
just once in a while I get a sharp pain in my wrists. The pain also runs to my
fingers, mostly my middle fingers on both hands which seem to both curve
outwards. My mother has the most problems now. She is 64 and says her wrists
feel as if someone were twisting them around. She has alot of pain in her
wrists, but is otherwise healthy. I was wondering if there were any ongoing
studies of people with Madelung's, and where I would find out the information?
It was very comforting to know that other people can relate to this problem, and
surprising to find that I am not alone. Thank you
From S in the UK in em contact [ CL ] DCS+MWD
Hi My name is S (female).
I have a twin sister. We both have the Leri Weill syndrome. I have Madelung on
my right wrist twisting outwards. I live in England and I am 18 years (2001) We
have recently had operations to lengthen our legs by having the bone on the
tibia was cut below the knee and above the ankle and stretching the muscles,
tendons etc. We were both around 4,7in and 16 years. From the operation we have
both grown 3in in the tibias. We both stopped growing at 14 and I was bullied at
school because of my height. We never knew why we were small until we were 14.
We thought it was because we were twins. I also have Madelung Wrist Deformity.
When I was 10 I was in my room doing something which involved turning my right
wrist noticed that my arm was twisted. I let my mum know about it and she said
we would see the doctor. I had an operation on my arm and since the operation I
have more movement It is still twisted and and some thing are still difficult.
If anyone is interested in talking about anything then let me know S
From D2 in the USA in e-m contact [ CL ] DCS
hello, Nigel, i really
liked your site .I just wanted to say how much it means to me that people are
looking into this.i dont have the time right now to send you my story but i will
later.Just to give you some information i'm 39 (2001,female) and have 2 sisters
and 1 brother 3 of us have DCS and of our children 4 out of 5 have it.well i
have to go but soon i will write my story for you and thanks again for your
site. D
From S2 in the USA in e-m contact [ CL ] DCS+MWD
Dear Nigel Cook, My
name is S (female). I will be 16 in 2001. I'm 5'1 and I have both Madelung and
Dyschondrosteosis. The Madelung causes me alot of problems. My wrists are very
weak , and ache when I lift heavy objects or use them frequently or for long
periods of time. I inherited the deformities from my father who is 5'5, and also
has both. He does not have as many problems as I do. I also have an 19 year old
brother, who also inherited these traits, but just like my father he has few
problems with it.He is also 5'5. My legs and arms are very short and my legs are
slightly bowed. I have never had any tests done to show how severe it may be,
partly because I haven't been to a doctor yet that has heard of these
conditions. I have tried for years to learn new things about my condition and
had never found anything, so I thank you for making this website.My father has 2
full blooded sisters, and 1 full blooded brother. He also has 3 half brothers
and 1 half sister, but I can't explain about them because we don't keep in touch
with that part of the family. His full blooded brother , 41 years of age, also
has these traits, and so does his only daughter 21 years of age. He has few
problems, but his daughter has the same problems as I do. One is 5'6 and the
other is 4'11.His sister 43 years of age also has both deformities. She has many
problems just as I do. She is 4'10 and has 3 children 2 daughters and 1 son. Her
son did not inherit these traits. Her oldest daughter is 22 years of age and has
few problems and it is less visible she is 5'1. Her youngest daughter is only 9
years of age but it is still visible, and she is very short for her age. His
other sister did not iherit these traits. We believe these deformities were
passed down from their father, but we are not certain. I would appreciate it
very much if you would get in touch with me. I'm currently living in - in the
US, but was raised in - were everyone that I have told you about except for - ,
and my father, are currently located. I would be happy to give you any further
imformation that you may want. Thank you for your time. Sincerely,. S
From K in the USA in e-m contact [ CL ] DCS+MWD
Hello, My name is K
(female). I lived in Canada, now I live in the US. I am twenty years old in
2001. I discovered my pain in April of 93', when I told my mom that my wrists
hurt, she took me to a doctor and I got X-rays. The doctor thought that I had
ganglion cysts then another doctor thought that I could possibly have a tumor on
my wrist. I was clinically diagnosed with (Bilat?) Bilateral Radial
Deformity-Madelungs Deformity, at the Children's Hospital. MRI and CT Scans,
helped in this discovery. It is present in both wrists, (bothers me in the left
more than the right. The right is less marked, and an inch and a half longer in
length than the left. I am 5'2, I have identified having large muscular calves,
and I also suffer from Scoliosis. As a young adult I enjoyed such activities as
horseback riding, gymnastics (when I was a lot younger) badminton, basketball
(was not easy with one arm shorter than the other) I also enjoyed volleyball for
a very short period of time, I could not set because my left arm was shorter. I
have a fair size forearm on my right, basically all the muscles on my right arm
are over developed and large in size and on my left arm they are small and weak.
I have protested against all types of surgery and have kept well exercised
riding motorcycles to kill the pain. I was told at age twelve that I would not
be able to hold a pan and cook, pick up my own child when I am 25 etc...I made
it my mission to show all the doctors wrong, despite the pain. I am still
functioning but I do feel the weakness. I am interested in talking to people who
suffer from the same deformity. It is truly a miracle that I found your site and
thank you so much for bringing this group together.
Followup: Nigel...I just
wanted to thank you again for putting me in touch with such wonderful people! In
the last five days I have come home from work everyday and sat myself in front
of the computer...I have chatted with the others and learned more about
Madelungs, Leri-Wells Syndrome, and DCS more so than most doctors have! I now am
led to believe that I may have Leri-Wells...but I will let the doctors decide
that.
From B in New Zealand in e-m contact [ CL ] DCS+MWD
Dear Nigel, good to
see info on the net as to this condition.and not to dismay the belief that it
does not start young. I am a new Zealand male 5ft 4,32 yr old in 2001, who has
been diagnosed with Leri-weil or Dyschondrosteosis with madelung deformity in
both wists/ forearms. Prior to this and for the last seven years my condition
was presumed to be hydrocondroplasia. (probably meaning hypochondroplasia a
milder form of achondroplasia) I never had major problems as a child except for
shoulder dislocation, and guess my condition was always there but, did not start
to come on until I reached 25. My work history from age 16 had always been heavy
and untroubled. my last employment was a somewhat lighter workload until 1994
when I began experiencing severe pain in both wrist/forearms,loss of feeling,
pins and needles, constant pain, then to the extent where I would experience
shock when my left arm was stretched forwards. But I carried on thinking nothing
of it. It was 8 months later when my daughter then aged seven went to the
Orthapedic Dept that I discovered a piece of the puzzle (measuring hands feet in
relation to body height). I have experienced in the last seven years MRI Scans,
CT Scans, complete xrays, Ulnar Nerve studies, work trials, offered steriod
treatment, Surgery, attended two gyms, had pychiatric help and been told by one
specialist its all in your head, another to live with it. I was pleased to see
on your site others with similar discontent, displelling the last two comments
and in some ways the last seven years. I like most are not free of constant pain
that nags and is most times unbearable, but have in some terms accepted my
condition. I guess the hardest part is repeating yourself over and over again to
people who have no idea what we experience. It is believed now that my condition
has passed onto my daughter now 12, whom is showing the same symtoms I have.
Followup Oct 2001
Copy of letter from his local (NZ) genetecist to his
orthopaedic surgeon copied to B
This letter is a record of matters discussed
when I met with you and your daughter A in - recently. We met to discuss the
diagnosis of Dyschondrosterosis that had been made in A and by influence in B
and other family members. We started by reviewing the family history. I note in
particular that B has always had short stature and he also has a deformity of
his arms, which has resulted in him now being on an Benefit because he is unable
to continue his occupation. B has always had the diagnosis of hypochondroplasia.
Amongst his family his mother is also noted to be short (5"4) however is within
the normal range for females) but B's full sisters and brothers are considerably
taller. B's mother was adopted so we don't have alot of other information from
her background. A is your only child and she is now 13 years of age, attends
intermediate being 2nd form. She enjoys school and is making good progress but
her sports activities are limited to swimming. she is healthy and more recently
had investigations done by her Orthopaedic surgeon (above)because of this and
the diagnosis of Dischondrosteosis (sic) was made at that time. Although B has
carried the diagnosis of hypochondroplasia for some time, and this diagnosis was
also contemplated in A, Mr - has recently correctly identified the bone dyplasia
(sic) in the family as Leri-Weill Dyschondrosteosis. This type of bone disorder
presents with short stature, and shortening in particular of the middle segments
of each limb(the forearm and lower leg). Also in affected individuals, a
particular wrist deformity develops overtime which is called Madelung Deformity.
This is considered to be the diagnostic of this particular disorder. The
disorder developed in A since her last lot of X rays in 1994 and after I had
arranged for both A and B to have their wrists and arms x-rayed, B who was also
reported as having bilaterial Madelung Defornity of both wrists. This therefore,
confirms the diagnosis of Leri-Weill Dyschondrosteosis in both B and A. As I
explained to you in the clinic this is an autosomal dominant disorder. This
means that an affected person (like B) has a 50/50 chance of passing it on to
each of his children. It is possible that B's mother is also affected by this
condition, although without examining her we will not be able to confirm that.
Equally it means that A's children will also have a 50/50 chance of inheriting
this disorder. This disorder has had no impact on B's health, but recently has
certainly impacted on his ability to do his choosen profession. The Madelung
Deformity of the wrist is progressive, and does reduce the flexibilty of the
forearm and wrist as time progresses. This is also likely to happen to A, and so
she should be choosing her career very carefully, bearing in mind that she may
have differculties with forearm and wrist mobility in the future. We also know
this disorder is a genetic one, and we in fact know what causes it. Affected
individuals have a small piece missing out of a very important gene called the
SHOX gene. This gene is at the top of X or female chromosome, so B has one copy
of his X chromosome, and A has inherited this from him. In addition A has a
normal X chromosome she has inherited from her mother. The identification of
this gene as a cause for this type of bone disease is very recent, but will
research through international groups as discussed... Signed Medical geneticist
From J in the USA in e-m contact [ CL ] MWD
Hi my name is J (female). I
was looking through a website about Madelung Wrist Deformity. Because that is
what i have. and also my seven year daughter. None of the doctors have heard
about this deformity except the one doctor that diagnosed me. I was wondering if
you could help me. I need some information about Madelung Wrist Deformity. Could
you send me some? that way I can show it to my doctors. Will this deformity be
painful at times? or cause problems with the nerves? Please let me know as soon
as possible. Here is my address - USA . I was born like this. I can't turn my
left hand and my right hand turns about half way. I'm 27 yrs old in 2001. please
I hope you can help me any way you can. I will be waiting for your contact.
From R2 in the USA in e-m contact [ CL ] DCS+MWD
I am 39 yrs. old in
2001, 5'9"female, I have been a secretary since my early teens and in the past 8
years have become a "heavy" typist. I found your website and would like to share
my story. When I was 12, I lost all stength and motion in my left arm, surgery
was performed by shortening the outer bone in my left arm, therapy brought back
my strength and motion, but left my left arm shorter than the right (I've lived
with this, no problem); case closed, problem taken care of. 26 years later,
because of pain, numbness at night, and tingling in the left and right wrists,
which has traveled up to my elbows, I was tested for Carpel Tunnel Syndrome and
was told that I have Madelung Deformity in both wrists. I was surprised and
shocked that after so many years there was a name put to a condition I thought
was taken care of. I am now told that I will have to have surgery to the left
arm by fusing the two bones together, which will put me back to square one, in
that I will be left unable to twist my left arm and will remain in a permanent
"hand shake" position. I am now in the process of searching for a second opinon
because I am told that surgery is my only option, being that the wrist bones in
my left wrist are "dropping" and deteriorating. The right wrist will also need
surgery due to the fact that the outer bone is rubbing against the hand bones
and the friction is deteriorating the hand bones. I keep asking if this
condition is hereditary and am being told No. But for my own peace of mind, and
from some of the stories I've read on your website, I will have my children
checked for this condition. From a family of 8, I am the only person with this
condition. As for family history, I have not heard of any other family member
with this condition. Thank you for your website. Thank you...reading the other
stories gave me a connection and took away the feeling of being alone. The Dr.'s
told me it was not heriditary. But, still, in reading your groups stories...I
don't know. I have always assumed that the foreshortened left arm was the cause
of surgery (there is still alot I am learning as I look into MWD, is DCS part of
MWD? does one come with the other?). From x-rays, my left forearm bones are
definitely bowed. I tried looking for the medical records from 26 years ago, but
was told that too many years have passed and they were not available. I have
always taken extra care of my wrists, in the past 3-4 years I have been wearing
"carpal tunnel" braces along with ace bandages and "crafter" gloves when typing;
sleep with the same type of "carpal tunnel" braces; take Glucosmine tablets; and
do not left anything heavy. I never really saw this as anything other than a
weakness in my wrists, until the pain started. From other stories, I feel very
lucky because it has only recently affected me. I am very confused, but will
continue to keep a positive attitude and find someone that can give me answers,
I will be seeing a couple of other hand surgeons and am hopeful that they can
give me a better surgical option than losing my mobility
From M in Canada in e-m contact [ CL ] DCS+MWD
I am a 28 yr. old (2001)
girl living in - ., Canada. I was diagnosed approx. 20 yrs ago with MWD, at - .
I have seen so many Dr.s and have in total 5 operations on my right wrist (as it
is the worst!) I remember as a child waking up and having to "snap" my wrists to
make 'em work properly. Then falling (as normal kids do) and mom rushing me to
emergency, and the Dr.s didn't know what to think. I usually was splinted or
casted, and told it was a sprain, hairline fracture, or dislocation. I was sent
to see a local Orth. Dr. and he in turn sent me to see a Orth. Dr. at - who then
diagnosed me with bilateral MWD. At that time I remember being told it was
usually due to ancestry interbreeding, and not very common at all. The only
answer was to wait and put up with it until I was done growing and then fusion
would have to take place. When I was 12 I fell on my right wrist and permantley
dislocated the wrist, and it was casted and it grew to be that way. Everytime I
twisted or grabbed something the wrong way I was in enormous pain and could feel
my wrist bones move and snap. I saw another Dr. in - who diagnosed my mom with
it as well, and now we remember back, my grandmother had wrist trouble too,
therefore she may have had it. This Dr. was going to replace my whole joint with
plastic bones and do a whole reconstruction, but then a new surgery to Canada
came up and less then a month later I was admitted to - and had an Ilizarov put
on my right wrist for 6 mths. This was incredibly painful but a fascinating
experience being so new and experimental, I was assessed by Dr.'s from all over
the world. The surgery did not work as planned though, I am not sure whether
measurements didn't correlate, or what but my arm ended up one inch longer, and
I didn't have full movement up or down. Then my nephew was born in '93 (my
brothers child) and we were concerned, knowing the "deformity" was hereditary.
He went to see a Geneticist at - in '94 who in turn diagnosed him (and
ultimately me and my mom) with L-WS. This was the first we had ever heard of it,
we were shocked, as until then it was just a wrist deformity. I lived with it
for over ten more yrs after that. Working was and is very hard, but because my
wrists almost always hurt, it doesn't even phase me now. They have to be
extremely painful for me to take pain killers, as I am so use to them hurting.
In fall of '99 I went to see my new orth. Dr., (I was too old to go back to - :(
) and he said only option was to fuse, I said lets do it and get it over with, I
was already prepared from a young age, so it didn't phase me. I had
osteoarthritis setting into the joint and the pain was becoming unbearable. So
had my right wrist fused (missed 3 months of work) and have not regretted it a
bit. Sure there are limitations now and things I have had to adjust to but now I
have a secure joint. No more wobbly bones and little pain (most aches here
there). Today I still can't stir cookie mix on the counter, have to do it on a
chair and by use of an electric mixer, can't lift anything heavy, I have trouble
cleaning the bath tub (turning my arms) but I get around it just fine. (there
are people worse than me) Eventually may have to do my left one as well, and now
that the left is doing more that the right (movement wise) it will I am sure
deteriorate faster. My family and I really never got too much more info, as
there isn't a lot available, until my mom found your web site. Wow, we are worse
than we thought. She (mom) suffers from incredible neck and arm pain (although
just started bothering her within the last 10 yrs), (me it started at a very
young age) numb hands pins and needle from her neck down to fingers. We all are
very short stature, have huge calves, and not sure bout radial head displasia. I
will have to get my ankles checked too, as they snap and pain a lot. Learned all
of this by reading others accounts. Thank You, I would be interested in
participating in any studies (my mom as well), and corresponding with anyone
about anything MWD, L-WS, Ilizarov, and or fusion. I am glad to know this and my
mom and I are planning to continue the investigations and will get her brother
and his kids, and cousins involved as well!!! Thanks!!!!!!
From C in Australia in e-m contact MWD
Hi Nigel As you have heard before
- How interesting it was to read your web pages. I (female ,aged 53 in 2001) too
remembered the words - Mendel and Mendelssohn from the doctors (in London).
[She put "mendel" and "wrists" as keywords in a search engine and found this
file so the second person to have landed here without in effect a medical
diagnosis. It was most likely the same consultant she had seen as in my family.
He must have mispronounced or maybe even misremembered Mendel instead of
Madelung]
We first noticed my bumps after I had collapsed doing a handstand
against the wall bars at school aged about 10. I went in for something else when
I was about 15/16 and this was an aside. I have not had any X-Rays to confirm
this. The 'trainees' looked it up in a book, but the older guy was the one who
told me it was hereditary, and that if I was not in pain I was not to worry
about it. He also said this could occur in the legs but couldn't find any other
instances in me Both my wrists have this 'extra bone' or bump. My grandmother
also had this. I have not had any pain or problems with my wrists apart from the
'slight weakness'. My arms and legs are both normal size to my body. I am not
sure if Madelung wrist deformity really applies as I appear to be 'healthier'
than the contributors to your web site. (Note: People with the non-painful
version of MWD have no spur to discover what the problem/anomaly is and don't
have a reason to go to a doctor, get a proper medical diagnosis and then find
this site). I am interested in the hereditary aspect of this though. Do you have
any facts / links on this aspect? i.e. is it passed from one generation to
another by either sex, do all the ?females in one generation display it? how
common is it? (you mentioned 1:100,000) Thanks
From L in Northern Ireland in e-m contact [ CL ] MWD
Hi my name is L, I
was diagnosed last year at 21 and as far as I know am there is only one other
sufferer in Northern Ireland (in 2001,female) a bit younger than myself. My pain
has only really started just before I was diagnosed with MWD but has got
increasingly worse and I go for surgery in under a months time as the surgery
was succesful with pain in the other girl. I would really like to keep in
contact with other people with mwd and think your site is amazing as it is
impossible to find any detailed info anywhere else. Thanks for the good work!
From A2 in the USA in e-m contact [ CL ] MWD
I (female) too have been
diagnosed with Madelung's deformity. I had trouble with my wrists since my early
teens. At fourteen, my physician said my pain was from a cyst. After months of
physical therapy and anti-inflammatory's it's pain became bearable, and I just
adjusted to it. At twenty, I lost almost all use in my left wrist. No activity -
not even writing, pouring drinks etc was possible without horrible pain. I found
a wonderful orthapedic surgeon, who diagnosed my condition and recommended
surgery. Surgery was my only option. I didn't want metal plates i n my wrist, so
my surgeon shaved the bones in my wrist so they would align properly. I was in
physical therapy for six months following the surgery. I had pain after surgery,
but every surgery will bring you pain. I had trouble regaining my range of
motion. That's why I was in PT for so long. Finally, we found a device that I
would wear on my wrist for 1-2 hours a day, which helped me work thru the scar
tissue, and regain my motion. Today, I have 95% range of motion. If my wrist
becomes stiff, I put that contraption on and it usually helps. I have HAD NO
wrist pain like before my surgery. Occasionally, I wake up with a stiff wrist if
I sleep with it in the wrong position for too long. (I was cast for three weeks
from my hand to 1/2 way above my elbow.) That's where this stiffness issue arose
from. I just want people out there to know, that surgery made a wonderful world
of difference for me. No one should have to live with pain like that
permanently. I would (and am about to ) do it again.[one wrist down, and one to
go] It was well worth it. A - in the US
From M in Australia in e-m contact [ CL ] MWD
Hi Nigel, My name is M and
I'm from -, Australia. I am 26 years old (2001,female ) and was first diagnosed
with Madelung's Deformity when I was about 7 years old. I went to see a
specialist who knew a bit about this condition and was advised not to
contemplate surgery as it doesnt work and is only ever done for cosmetic
reasons. After reading the other emails it was a huge relief, Ive never known
anyone else who suffered from this and am always being told how rare it is. No
local Doctors know what it is and very few specialists either, I even saw a
radiologist who couldn't even find it in her Medical Book. My wrists seem to
have become more painful as Ive got older, waking me during the night and
becoming unbearably sore in cold weather. People are always asking how many
times I have broken my wrists (I have MWD in both wrists) and I have gotten to
the stage now where I tell people I broke them falling off a horse cause its
easier. I would absolutley love to get in touch with other sufferers to know
their stories. If you could put me in touch with them or give them my details I
would be eternally grateful. As I said earlier my name is M - , my email address
is either: - I look foward to hearing from you soon, Thank you from the bottom
of my heart! M- -xxx-
From M2 in Canada in e-m contact [ CL ] DCS+MWD
Dear Nigel, I'd like to
commend you on your site. There's not enough awareness about Madelung's
Deformity out there but your site is definately a start. I live in - , Canada.
I'm 18 years old (2001,female ) and I was diagnosed with the condition when I
was about 13. I noticed that one forearm was slightly shorter and appeared
thicker than the other. My doctor had no idea what it was and sent me to a bone
specialist who had seen a few cases of it before, surprisingly. Fortunately I
was not in any pain. To this day, the pain is minimal. If I lift heavy things I
might have some pain for a couple weeks. This has only started recently. I
probably should have taken more care not to worsen the problem but I never
wanted to accept that I was different in any way so I pretended I could do
whatever I liked. Now I'm starting to worry a bit. I have always been ashamed of
the appearance of my arms, as they're short. My legs are on the short side too,
although they appear normal and x-rays show nothing wrong with them. I'd like to
know if there are any surgeries that could help with the appearance of my arms
and also prevent them from hurting in the future. I intend to get back in to see
the specialist but there's a long wait. I haven't seen him in years and hardly
know what questions to ask. Is it possible for me to get in touch with any of
the other people who've told they're stories on your site? Especially the girl
"S from the UK" who has a twin sister, who've had operations done? Thank you!
Sincerely, M
From W in the USA in e-m contact [ CL ] MWD
Nigel, I have a 16 yr old
daughter who was diagnosed with Madelung's after a fall last year.
Unfortunately, she also has a Radio-Ulnar Synostosis (RUS) in the same arm. She
has two rare problems in the same arm. The pain can be daunting. Her elbow,
shoulder, and wrist seem to sublux at will. Is there any information that seems
to consistently help with the pain? Fusion surgery is not an option, she already
has very limited usage of this arm and with the RUS the likelyhood is that
surgery wouldn't be helpful. The current thinking on the RUS is that any surgery
would only be painful and the bones would revert back their original positions.
Again, any pain relief ideas would be welcome. RUS is almost if not more rare
than Madelung's in females. My understanding from one of the orthos we saw is
that Madelung's doesn't usually get diagnosed until later in life (that it is
often thought to be Carpal tunnel syndrome at first). W
Followup in 2005
My daughter has been diagnosed with Madelung's since the spring of 2001, she has noticed a weakness in her hands. However, the way she describes it is: "All of the sudden my hand just lets go of whatever is in it. Or won't react to my "commands"." Also, we are noticing that her thumbs seem to be dropping out of place. More so on the hand that is complicated by having a Radio-Ulnar Synostosis in that arm.
From L2 in Canada in e-m contact [ CL ] MWD
(original contact via her
boyfriend)
Hi Nigel My 33 year old girlfriend (in 2001) and i are interested
in finding out about her wrists. They have a deformity which takes the form of a
small knob on top of the wrist and a slight inward turn. We're don't know if
it's dyschondrosteosis and/or Madelung. We want to figure this out first of all.
Secondly she wants to know about corrective procedures (she hates the way it
looks). And thirdly we want to find out about the likelyhood of our children
contracting it and what if anything we should do to prevent it or lessen the
effects. There are some ancestors in the grandparent chain who have the
condition also. She's a short girl - 5 ft. - and has a very slight inward
knobiness to her knees that makes her a little pigeon toed also, although just
this may not be related.
From L2
Yes, I live in Canada. My boyfriend
stumbled across your web site and passed it on to me. I'm really not sure what I
can tell you other then that I am almost certain that I have MWD. I have no
pain, but am super self conscious about the appearance of my wrists. I would
give anything to look normal!!! I used to lie to people when they had asked me
why they look the way I do. I would just say that I broke them playing on the
swings when I was little! Pretty pathetic, eh?? Anyway, I've read that only
about 1 in 100,000 people have this. In my family alone, there are 4 of us. My
dad, his 2 sisters, and me. I believe that my great grand father had it too, but
I never met him as my family is from Italy and he had already passed away before
my first visit to Italy. Can you tell me if you know of anyone who has had
surgery with positive results? I haven't seen a specialist yet, but if there is
the chance that this problem can be corrected, I would GLADLY have it done! [
The third person to have arrived at this site without a proper medical
diagnosis, plus myself that makes 4 ]
From H in the USA in e-m contact [ CL ] MWD
My name is H and I am 20
(2001,female ). I have known that I have MWD since I was 15, when I was in a car
accident and I had xrays taken of my wrists. I just recently went to see an OS,
to try to get some sort of relief for my pain. He said that the only thing that
would help me now is to have surgery. I decieded to go along with the surgery
and I am pretty scared about it. I was wondering if you could put me in touch
with someone that has had the surgery done so I can know what to expect. Thank
you so much!
Followup:Nigel, I have asked around in my family to see if
anyone has MWD, and nobody has any signs of it. I am a part of the first
generation in my family to be born in America. My family comes from Poland. My
father always says that he has weak wrists from being a mechanic, but maybe he
is just trying to be tough, because when I told him that I had MWD, and asked if
he knew if anyone in the family had it he said no way! Thanks for putting me in
touch with those people!
From S2 in the UK in e-m contact [ CL ] DCS + MWD
Dear nigel Yet another
person who couldn't believe it when I came across your web site. I thought my
family and I were the only people with this deformity. I am 40 years old female
(2001) with my right wrist worst then my left also slightly bowed legs, my
daughter has the same condition. I have three sisters and one brother, only my
eldest sister with quite severe Madelungs none of my other sisters or brother
are affected. My mother has both wrist's badly affected. My daughter and I have
been to see two specialists who have taken lots of x-rays and that's about it,
and are not prepared to do anything else as they have not seen anything like
this before and don't quite know what can be done. I wish there could be
something done as my daughter get very upset, and hates showing her arms even in
the summer when its really hot, my heart bleeds for her. I know how she feels as
I will not wear shorts or skirts as I am very self conscience and have cried
lots of times myself, I long to have something done if not for myself for my
daughter. I now feel better in myself knowing there are other people out there
with the same condition, I would love anyone to contact me through the site, and
if there is hope in the medical world for something to be done I would love to
know about it. kind regards s from - in England
From S in New Zealand in e-m contact [ CL ] MWD
I am a 16 year old girl
(2001) from New Zealand and was recently told i have Madelungs WD, i dont really
know much about it and i was wondering if you could give me some information on
it, in simple terms i can actually understand......at the moment my orthapaedic
surgeon is looking into quarterzone injections which he hasnt really told me
anything about, what exactly are these? Thanx, S
i only have a slight case of
MWD, one of my bones is only a 1.5cm too short it just causes a lot of pain, you
can't tell by looking at my wrists that i have it, all that is really wrong is
that when i put my hand together in a vertical position my right wrist can't go
straight up. S
From J2 in the USA in e-m contact
I've seen your webpage and I was very
interested in it. Why? Ofcourse I have the Leri-weill dyschondrosteosis syndrome
with Madelung's deformity. I just turn 20 years old (2001 ,female ) and I'm from
the USA. I was diagnose with the syndrome 2 years ago. I had surgery one year
ago on my left wrist, my bones were cut down evenly and my wrist bones put in
place. This surgery was supposed to help my pain decrease, put instead, it just
took all my strength away and I still have pain. If I decided to write to you is
because I see that you know a lot about this syndrome, and I would like for you
to if its possible that you can email me back with information that I can
understand. Every thing that I found on the syndrome and deformity have this big
words and definitions that I can't understand. If you can simplify this terms
for me and my mother would appreciated so much.
From S3 in the USA in e-m contact [ CL ] DCS+MWD
Hi, my name is S
(female) and I just ran into your website. I'm 30 (in 2001) and was diagnosed
with Madelung's deformity when I was 14. I was a competitive gymnast at the time
and very serious until my wrists started giving me trouble. Believing I had some
condition related to gymnastics, (I trained 4 hours a day, 5 days a week) I went
to a hand specialists. After taking x-rays on my wrists, and then spending the
next hour waiting for the doctors to look up my condition in manuals, they
diagnosed me with Madelung's deformity. My arms are disproportionately short,
and my bones stick out quite a bit on my wrists. Everyone I meet always asks me
what's wrong with my wrists, or simply ask me if I've ever broken my wrists. My
brother, father, and paternal grandmother all have minor cases of it, however,
theirs was not severe enough to be diagnosed. We all look like a family of
Popeye relations. I also believe they were not diagnosed because they were not
involved in any activity that required them to go see a specialists. If I were
not a competitive gymnasts I would probably still not be diagnosed. I'd just
continue thinking I had weird arms. After all, all of us have at least one
strange body part, except supermodels. Currently, my wrists give me no trouble,
except when I do some activity that puts a pushing strain on them such as
handstands. My wrists generally hurt above my ulna, where most of my weight is
concentrated because it is the longer bone. But since I rarely do that anymore,
I see no reason to complain. While I do exercise avidly, my wrists have not
hindered any of those activities. I type extensively, I am a graduate student,
but fortunately have been able to avoid wrist problems. The most obvious symptom
I have now is limited wrist flexibility. I would be interested in receiving some
information about the condition, or at least the ability to contact others.
Thank You, S