Im CLAW,
Im 31, and i was told i had this syndrome 7yrs. ago.Im learning more as i go. as far as seeing iv heard nothing on this matter.i am however loosing my legs from the knee down. they get smaller and weaker all the time. my hips are going to. i had ear tabs,no opening in my anus,extra didgets,clubed feet, no peanel opening,hearing loss,and poor eyesite are also a problem. im also been told i was byepolar.my 5yr.old shows no sighns, but my sisters 2 kids have atachia,and angelmon sydrome, this is related.

Dear all
I gave birth on May 25th to my son Alex. HE has been diagnosed with TBS, it was a shock for us as there is no history on our family.
Alex didnt pass the ABR test and has been diagnosed with severe heraing loss, now we are waiting to have an CT and MRI scan to see the structure of his inner ear and to see if he might qualify for a cocklear implant

I wanted to ask if any of you had severe-profund hearing loss and what parts of the inner ear it affects?

At the moment my husband and I are trying to deal with the best possible way but it is very hard

I will apreciate your replies

Miriam

google these are similar to the syndromes mentioned....beals syndrome, sali1 gene and townes brock....let me know if you need more info i am goin to a specialist as of nov for more info on mine and my sons defect

Its nice to have stumbled on to this site. My daughter who is now 6 has many of the symptoms of tbs. She has an anteriorly located anus, mis-shapen thumbs, extremely small ear canals, some extra and absent bones. We have had nearly every test that could possibly be ran. We were seeing a genenticist who failed to keep in contact with us for a definitive diagnosis. Im trying to retrieve all of her medical records and find a new physician as we continue on the road of a complete and accurate diagnosis. We live in Missouri. Any suggestions on a good doctor in the area? And also the heart is the only thing weve never tested. How prevalent is that problem among sufferers of this syndrome?

Hi I have a daughter that has townes-brock sydrome. When she was one years old the doctors told me that sometimes the parents will not have the gene that it just happens. I am not so sure of the doctors, but there could be a little hope that you don't have the gene for this to happen.

Hello Bryliesmom... St. Louis Children's Hospital in the Barnes-Jewish Hospital complex of Washington University is the best in the state...absolutely top of the line. I don't know the name of a geneticist there, but I do know that much research is associated with the hospital and that they are very good. I hope this helps! Best to you all.

hi my name is pauline i think i suffer from townes brocks syndrome. i also think my five children suffer from it. my life is a living hell.

New to site and would like to know more about Townes brocks for my son. He was diagnosed at birth and is now loving life at 5 1/2 years of age.

Hello,to both pauline and nebraska!! Welcome!! Most of us that have posted here re:TBS have found a wonderful group of ppl in a group dedicated to those who have TBS in our lives! Go to yahoo groups,put in Townes-Brocks syndrome.The moderator is a wonderful person who is in constant touch with Dr.Juergen Kolhause,a german doc who specializes in TBS.Let them know Amy sent you and you can become a member;find out what you need to know,and more! Good luck and Godspeed!