congenital adrenal hyperplasia nonclasic
my son is 19 had elevated 11dexycortisol level. he hadACTH simulating test done how the results should be interpreted? we will see endocrinologist only on tuesday
my son is 19 had elevated 11dexycortisol level. he hadACTH simulating test done how the results should be interpreted? we will see endocrinologist only on tuesday
Hy, i just read an article on the web about prozac and birth defects and I would like to know if it's true that taking prozac during pregnancy can lead to birth defects.
Hi, my husband is 27 and JUST got diagnosed with KFS today. I am absolutely floored after reading about this syndrome, its like the past 7 years are all starting to make sense. We knew he had a lot of congenital problems but no one had ever really put a name to it. 7 years ago he had to have...
I'm hoping to get some answers to this problem that my 2 year old son has. He is abnormally small for his age - small head, small trunk, small hands and feet, etc. He does not seem to be growing normally, but the doctors he has been to seem to think he is just a small kid, and have done few...
I was born with KFS & Sprengels deformity.I am 31yrs.old now,i also have a 10yrs.old daughter. I was seen by doctors at Shriners in Tampa,FL.& am truly thankful 2 them.I was born a month premature.I am serverly short (4'2"),but in my case i was born missin' 3 of my vertabre in my neck.The doctors...
Hello all, I was diagnosed with KFS back in 2002 when I went in to the hospital to have 2 disc replaced in my neck....I actually had a bad disc, then 2 good disc, then another bad disc! I don't have my medical reports right in front of me, so can't even recall which discs they replaced. I was...
Regarding a search for surgeons with an expertise in Klippel Feil Syndrome:Dr. Jens Chapman, orthopedic surgeon at University of Washington Medical Center in Seattle, WA, has a sub-specialty in Klippel Feil Syndrome. He has been following my medical progress since 199. He is world-renown and sees...
27 year old male w/ right side missing pec major. I am assuming it is polands, but with no hand deformities. As of the last year I am experiencing severe spine, hip, and back pain on the right side. I also am a carpenter and push saws, drill, dig, hammer, etc. while using my right hand. I have...
Hello Doctor,Greetings for the day!! I am in start of 6th month pregnant and just did my ultrascan 28th feb in which doctor indicated Congenital PVS Obstraction Uratro Pelvic problem in both the kidneys of the fetus. There is a sweeling in both the kidneys as the urine is not passing to equal...
hii am male 33 and wife aged 23, she delived a female baby in mid of 8 th month. Baby dead. Doctor told that baby was dead because of genetic problem. My family members dont have any problem, but my wife's father have some mental problem.As per doctor adive we plan to have genetic test. let me know...
Does anyone know of any self help groups for people with First Arch Syndrome? The ones I know relate to children and not adults.Also I would like to know of any professionals with this disorder, who can inspire me. I am a recently qualifed Adult Literacy Teacher. However my experience of the...
Recognize the risks associated with Crohn’s disease.
Did you know that one in six US adults has high cholesterol?
I'm hosting a fundraiser that will donate money to the Alkaptonuria Society, and I know about the disease but I was hoping that I could have a direct conversation with a few patients with Alkaptonuria. I would like to learn from someone who has had a first hand experience, to learn how a normal day...
Hi, I have had a hard life, not happy childhood. I have been bullied, teasing by boys. I am deaf as well. I have speech problem but some people can understand me well from read my lip. I have been hurt myself many times, I have been in black hole, I have anger problem. Now I am 28, I have just...
my son 18 years of age now, was diagnosed with dandy walker syndrome when i was 7 months pregnant. he has some mild motor skill problems and migranes perodically need help he has had a migrane now since 6:00a.m. this morning and still has it despite use of migrane meds. he also had on yesterday...
Hi,Our son has a Laryngeal cleft type I. He is now 5 years old. At the age of 14 months his cleft has been repaired.Laryngeal cleft is a very rare congenital anomaly of the larynx and little is know about it.Good information on future developments about the laryngeal cleft is hard to come by. And...
Hello,New to the site and concerened about my 3 1/2 month old having infantile spasms. We've looked on the internet and are just trying to get as much information as possible regarding the spasms because some of her movements seem worrisome. The videos we've seen have had a broad spectrum of what...
hi i have our baby boy with partial monosomy 21 and a ring 21 chromosome,he is now 6 months old,but has problem after problem since he was born,hes never taken to the bottle or even known how to feed or sleep,he has a ng feeding tube since he was born he is awaiting to go into hosp for the peg.he...
I'm 27 yr old and was diagnosed w/KFS in january.I had pain in left side of neck, hand, forearm, shoulder.,Sometimes in chest area.I have fusion of C2/C3 and C5/C6/C7 My MRI showed narrowing of spinal canalthis tuesday, when i woke up i had numbness in my both hip and right hand( along the side of...
I was diagnosed with KFS as a child and received chiropractic most of my life. C1 flips up and is fused to the Occiput and C2/C3 are fused together on the right side. The chiropractic worked well until age 25 or so when the pain and discomfort began to increase exponentially. By 30 I was about...
My friend's son is very small for his age and his mother is concerned. His bone age is higher than is actual age, though I'm unsure about how much older. And when he was born, his soft spot was very small, almost closed.So far, doctors are unable to provide any answers, although Progeria is a...
Do you have a Congenital conditions question or want to share advice?