Discussions By Condition: Rare Disases

Ehlers-danlos vascular with cleft lip and palate

Posted In: Rare Disases 7 Replies
  • Posted By: DIANA ALLEN
  • May 16, 2008
  • 06:14 PM

Im having a lot of problems getting to the bottom of my sons condition. My Dr's seem to just fob me off. My son was diagnosed with severe ehlers-danlos vascular syndrome but nobody can tell my why my son also had pyloricstenosis and a cleft lip and palate with limited speech and severe learning problems. Has anybody ever come across a case of EDS with cleft lip and palate and pyloricstenosis. I have only found one reported case of EDS with a cleft palate. But still that is not the case with my son as he has the extra symptoms which are nothing to do with EDS. The closest thing i have come across is Ehlers-Danlos syndrome, progeroid form. But again i do not know anyone who knows anything about this condition. Could anybody have any ideas on what my sons condition is?

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7 Replies:

  • http://symptoms.wrongdiagnosis.com/cosymptoms/cleft-lip/cleft-palate/learning-disability-desc-all.htm Here is a list of things that match your son's symptoms, other than the Ehlers Danlos. Is it possible the ehlers danlos is not what is causing his other symptoms?
    qwertyuiop123 453 Replies Flag this Response
  • Thank you for your replys. I have had a look at all kinds of conditions that could be similar, but it is getting tougher to figure out. I have The vascular form of ehlers-danlos syndrome so i know what that side of things are about. But like i said befor my son has something a lot stronger. His symptoms are very different to mine and i know there is something else going on with him. All ideas are welcome, i will have a deeper look at these other conditions that you have shown me. Thank you again for your ideas.
    DIANA ALLEN 3 Replies Flag this Response
  • your welcome. how old is he? Has he had his hearing checked?DOes he have any other symptoms?
    qwertyuiop123 453 Replies Flag this Response
  • Well my son is 11 years old now. His skin is very translutent and his veins are are really visible all over his body. But his skin on his arms, legs, hands and feet look about 90 year old and it is very delicate he has silicone protection to stop it tearing. He had pyloricstenosis as a baby which was repaired. His eyes are really wide set and his joints are really bendy. Too bendy for the vascular form. He also has a single cleft lip but had a bilateril cleft palate and a split uvulva. His speech is very poor like a 2 year old and he can not read or wright. Also he had a club feet and is painfully thin. His lip repair was excellent but his palate has never really took to surgery. He has had a collapsed lung, hernias and has problems eating. His eyes and ears have been tested and they are really good. When he was little the dr,s thought he had an ageing condition like progeria but his features changed has he got older. Iv met many people with differant types of EDS but none of them are as strongeas my sons. I know there is marfan syndrome on my side of the family and dwarfism and motoneuron diesase. But again nobody like my son. The only condition which seems the closest is ehlers-danlos progeroid form. But there is no dr's were i am that know anything about it. And they dont want to find out anymore about my son as it is to complex and to exspensive. All i get is some children are born veiny and the cleft side is just a red herring. He has had cromosone test and some other tests and theycame back clear. The EDS test came back suggesting it was vascular eds but it was not 100%. He has claw webbed toes aswell and he has dyspraxia. But he has done well in surgery. Apologies for my bad spelling! I hope you understand it all.
    DIANA ALLEN 3 Replies Flag this Response
  • It sounds like your son got pretty unlucky, genetically. Ehlers danlos explains skin symptoms, veins, joint symptoms, maybe the collapsed lung, or that could be marfan i didn't look into marfan i just know that it can a lung to collapse also his other symptoms could all be explained by genetic problems, such as an extra or deleted chromosome. The internet can help you more than most doctors, until you find something that fits his symptoms, then they can test for it. Something that seems to fit his symptoms is 4q deletion syndrome. The amount of chromosome deleted full or partial can cause more or less symptoms there are symptoms you haven't mentioned but it would explain Cleftlip and cleft palateclubfootwebbed toesdyspraxia Heres a website with info from parents whose kids have a 4q deletion http://www.rarechromo.org/files/4q-%20Parents%20Perspective%20Paper.pdf This may or may not be right, but i feel that chromosomes are definitely the cause of his symptoms, the problem is that there are so many chromosomes its hard to figure out which chromosome is the problem Don't give up, you will find out whats wrong with him, no matter if the doctor help you or not
    qwertyuiop123 453 Replies Flag this Response
  • I have just been looking at the 4q cromosome that you told me about. And it is fitting a lot of my son's condition, and a few other's of my family aswell. Even the life expectency fits, as there is a lot of unexplained sudden deaths between birth and 50 years old. I have been told my son's expectency is between 12 and 21 years. To be honest i think he is doing well because he dosn't understand he has problems. All he understands is that he has soft skin and that he has to be extra carefull. I am going to take a closer look at this 4q cromosome disorder and spritzen goldberge. It is just unfortunate they are so rare and there is not loads of information about them. But i don't let that stop me. You have been a great help as i didn't really go down the cromosome road of things yet. It is just a shame doctors don't take the same interest like you have. But like i said befor, i don't let it stop me. I am too stubborn! Thank you very much for taking the time to help me, your a true diamond!
    DIANA ALLEN 3 Replies Flag this Response
  • Your very welcome, I found a chromosome disorder website, which if you join the website which is free you can email a doctor a question. http://www.chromodisorder.org/CDO/
    qwertyuiop123 453 Replies Flag this Response
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