Klippel-Feil Syndrome Support Group

Wildervanck vs Klippel Feil. . . Okay so in order to have Wildervanck you must have KFS, yes? And if you have KFS, most likely you have other anomalies related to ears and eyes so you would call it Wildervanck? Does it matter, is one diagnosis better than the other? More defined? More rare? More chance of disability benefits? I am confused. Please help me if you have any information to share in this area.

Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment at birth (congenital). In individuals with KFS, there is abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Duane syndrome is characterized by limitation or absence of certain horizontal eye movements; retraction or "drawing back" of the eyeball into the eye cavity (orbit) upon attempting to look inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus). In some affected individuals, additional physical abnormalities may also be present. In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically).

Now to the really difficult part for me to say gently; so I will just give my medical dictionary definition. "A syndrome is a group of signs and symptoms that collectively characterize or indicate a particular disease or abnormal condition; the sum of signs associated with any pathological process."

Different syndrome names are given to signs and symptoms of those collective characterizations by physicians that do research and publish medical articles and reports. There are at present over 7000 rare disease labels (syndrome names). More are added daily as research is completed.

The decision on disability benefits is based on medical files and face-to-face interviews to find the degree of disability. (It ain't easy; but it isn't impossible.)

Grandma- you Explained perfectly as always. !!

Lisa, I have so much empathy for Amy. I have climbed the boulders of medical care, social stigma, and education at William's side already. As his wings unfurl, my breath catches many times a day and I blink back tears of joy often. His life will not be as easy as many others; but it is the journey he will continue with courage and determination.

Very touching sentiments. William will do great, I'm sure...esp with you at his side

Thank you so much. I have researched and found all of this information before and when I first went to the geneticists this is what I thought Thomas had before the KFS diagnosis. Ok, so here is my thing. Thomas technically has Wildervanck based on the full definition. So, for all intents and purposes when using a diagnostic code or in reference to Thomas' condition does it make more sense to say he has Wildervnack OR that he has Duane's, KFS and other related anomalies.

Is one better than the other? I mean it changed nothing with Thomas. Its all a matter of labeling and such. I am not sure how much it matters in the medical community since most would have to research it anyhow. Its difficult for me to find information and the Neurologists we saw said that he couldn't find any additional information on it that I had not already found. Not sure that was comforting or not to be honest, but it was a compliment to me nonetheless.

UGH!! I just hate this. I hate having something that has to be explained, a child that looks great but could be suffering in pain for years to come and no one knows about it, no one has real answers, no one can really HELP him. Sorry, side vent.

Has Thomas been medically diagnosed by a physician with Wildervnack Syndrome? Yes, the medical community will figure it out as you have appointments. It is the educational system and the social services system that you are going to have to prove the extent of his disability to over and over. KFS doesn't sound like a very disabling condition on paper. Wildervnack Syndrome does because it lists vision impairment, hearing impairment, and orthopedic impairment.

KFS seems so harmless from the symptoms used as a diagnostic tool: "It is manifested clinically by Shortening of the neck, Limitation of neck motion, Low posterior hairline. There is a risk of less apparent but serious accompanying abnormalities of the genitourinary, cardiopulmonary and nervous systems."

Wildervanck syndrome sounds serious: "The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment at birth (congenital). In some affected individuals, additional physical abnormalities may also be present."

Been there already, Allison, and I empathize so much with you. Sunday school teachers, school teachers, friends during a playtime, watching like a hawk at a playground, handing a principal the prescription for adapted PE while people say "But he looks so normal."

The sub-special geneticists suspected Wildervanck in November and we are waiting on the genetic mapping to come back and have a follow up with them on the results. I believe she can confirm the diagnosis. In fact, I am waiting on her an that call in order to file the Deaming Waiver application with Medicaid. The Ped and I figured the more diag codes that covered his conditions the better chance we would have.

Thank you so much, that is the clear explanation that I needed to confirm what I was thinking but couldn't figure out. If that makes sense. I like that I was able to find you through using KFS and the FB group. As I highly doubt Wildervanck will have such groups and people like you. I don't even know the odds of having that syndrome.

Thank you very much.

Post edited by: amjolley, at: 03/30/2012 07:46 PM