Joanne, who is 12 weeks pregnant, said: "The chances of us meeting as carriers are so slim, it's just pure bad luck that we managed to pass Joubert Syndrome on to Neve.
What does JS stand for?
JS stands for Joubert Syndrome
This definition appears frequently and is found in the following Acronym Finder categories:
- Science, medicine, engineering, etc.
See other definitions of JS
We have 56 other meanings of JS in our Acronym Attic
- Joint Services
- Joint Staff
- Joint Standards
- Joint STARS
- Joint Stereo
- Jon Secada (musician)
- Jonge Socialisten (Dutch: Young Socialists)
- Jordin Sparks (singer)
- Joseph Stalin
- Josephine Sisters
Samples in periodicals archive:
cystic fibrosis, fragile X syndrome and spinal muscular atrophy), tests for hemoglobinopathies (sickle cell anemia, alpha thalassemia and beta thalassemia) and routine tests for the Ashkenazi Jewish population, Good Start now offers the following additional tests: dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, glycogen storage disease type 1a, Joubert syndrome 2, maple syrup urine diseases type A/B, nemaline myopathy, Usher syndrome type 1F, Usher syndrome type III, and Walker-Warburg syndrome.
Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.
The gene, TMEM216, plays a role in two serious but rare disorders, Meckel-Gruber and Joubert syndromes.
After two and a half years, doctors finally diagnosed the baby with Joubert syndrome, a condition also characterized by an underdeveloped or missing portion of the brain that controls balance and coordination.
Gary Leith, four - who has Joubert Syndrome - and sisters Julie, 13, and Amanda, 12, are in hospital after the accident at 2am on Saturday, shortly after they arrived from Greenock.
Individuals with a rare inherited disorder called Joubert syndrome are clumsy when they walk or use their hands, and they have irregular breathing and eye movements.
Bennett's Story: A Journey of Hope "When my son, Bennett, was born with Joubert Syndrome, we were told he would probably never walk or talk," reflects Hillary Key.