Hello I was wondering in anyone knows any information about this rare gene disorder . My 2 week old son was diagnosed with this syndrome because he had an imperfrated anus, ear tags, extra digit ,some abnormobilites of the kidneys. I have tried researching this on my own there are only 50 causes around the world known. It is associated with hearing loss,kidney defects,even in some rare causes retardation. Please anyone who knows any information or a doctor in the U.S. who has treated children with this syndrome or a specialist if there is one I am looking for help and information.

kantana -
don't know if it will help, but try this number 314-577-8762. Dr. Susan Kiefer - doctorate in cellular/ molecular biology, but has currently been researching Townes-Brock and organogenetic transcriptional repression. She is with the St. Louis University med school and has PhD from Duke. Website: internalmed.slu.edu/nephrology/nephrology@slu.edu
Good luck - Dambasmom

Hi, I am Doris and I live in NC. My ex-husband had Townes-Brocks and it was passed on to my daughter. She was born with a dislocated
anal, skin tags around ears, and her lip was not completely formed together at one corner. She had surgeries as a baby to correct all these problems. She is 19 now going on 20 and just had a baby boy on Friday,Jan.6 2006. He was born without an anal opening but no other signs of Towns-Brocks. He is having surgery today to open the anal completely. The surgeon told us that the anal was partially formed but just didn't complete thru and open. Hopefully this will be his only surgery and he will have no complications from it. My best wishes for all those who deal with this but do know that there is good recovery and normal lives for these chidren.

I forgot to add that my daughter and also my grandson are using the same hospital. It is the best hospital in NC. It is the Children's Hospital at UNC/Chapel Hill,NC. They have an awesome team! I highly recommend them to anyone !

hi i was born with townes-brock syndrome and so were 2 of my brothers. i have now had a daughter that has it. she got 2 extra digits,ear tags and her anal was in a different place. the reason i am writing this is that some one said there grandson was having surgery on his anal because of it. i would like 2 say that he will be fine he should only need the 1 surgery like one of my brothers but if not he will only need another 1 or 2 surgerys like one of my other brothers and they will put him on a calostermy bag (i think that how you spell it) but in the end they all end up living happy normal lives

hi,everyone.i am a 41yr.old woman currently living in chapel hill,nc. my mother has townes brock,and i also have it...i have recently been experiencing problems with my vision,and am also experiencing a decrease in my hearing..has anyone got any idea if syndrome affects sight?also does anyone know exactly what causes townes brock?i was born with a hole in my heart,no opening to my rectum,mishapen thumb,mishapen ears,but no renal difficulties as of yet..this is something that has always made me feel..the odd one..

oh,yeah, i forgot to include cysts on my ovaries as a teenager,that necessitated meds.to dissolve..can anyone help me let people out there know there are more than 50 cases out there with townes-brock?

does this forum have a moderator? i would like to ask a question of someone who knows what the cause of this syndrome is...can anyone help me? thank you....

Here is a link to a pdf that gives a bit of an overview of the syndrome.
http://www.indianpediatrics.net/july2004/743.pdf

thanks,alain...already read it...doesn't really tell what is the cause...i know it is gentics,i know it is chromasomal in origin..just need to know more about it in depth to find out if it could be the reason for my failing eyesight@my age..i appreciate you posting this link,and am adding it to my favorites in case something new is added.katana,how is your son?doris,have the doctors told you anything other than it is heriditary?what is the abnormality of the chromosome that is responsible for this syndrome?my mother was the first in her family that they remember having this,and this was in 1929....someone help?

Are you asking what causes genetic defects or are you asking something else?

You seem to indicate you want to know if your symptoms are related to this particular syndrome or if they are something else. Is this correct?

hi,alain! i was asking if anyone knew if townes brock affects sight also..? i know my other symptoms are because of it...and how do you get yourself registered as a sufferer of townes-brock,because i read somewhere there are only 50 known cases...thanks for responding..

was also asking if anyone knew which chromosome is responsible for this syndrome?

nevermind...found it:SALL?something...maybe i am just in the wrong place....

does anyone that posts here have any idea if townes-brock could effect sight? i have read EVERYTHING i could find online concerning this syndrome,and can't find any connection between sight and this syndrome...maybe not related?i need to know before i lose the ability to'look' on the internet....