What is coffin lowry syndrome?

What is coffin lowry syndrome?

Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.

What is kleefstra syndrome?

Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).

What is generalized hypotonicity?

Definition. Generalized muscular hypotonia (abnormally low muscle tone). [ from HPO]

What is Schinzel giedion syndrome?

Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities.

What is Trichorhinophalangeal syndrome?

Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.

Is Kleefstra syndrome fatal?

Cardiac screening (for the presence of arrhythmias) as well as intestinal and renal/urologic monitoring is recommended. Medical follow-up is life-long. The prognosis of KS is variable but in most cases it is not a life-threatening disease.

What are the symptoms of hypotonia?

Signs of hypotonia

  • having little or no control of their neck muscles, so their head tends to flop.
  • feeling limp when held, as though they could easily slip through your hands.
  • being unable to place any weight on their leg or shoulder muscles.

Where do you get 5FU?

You will be given 5FU in the chemotherapy day unit or during a stay in hospital. A chemotherapy nurse will give it to you. 5FU can be given in combination with other cancer drugs. During treatment you usually see a cancer doctor, a chemotherapy nurse or a specialist nurse, and a specialist pharmacist.

Where are Hidea motors made and tested?

Our motors are designed, built and tested in Hangzhou, China to the highest quality specifications. Hidea offers 4-stroke carbureted and Electronic Fuel Injected (EFI) models ranging from 2.5 to 60 horsepower. Click to complete our online motor registration form.

How do I Register my hidehidea motor?

Hidea offers 4-stroke carbureted and Electronic Fuel Injected (EFI) models ranging from 2.5 to 60 horsepower. Click to complete our online motor registration form. Get reminders about your service and make sure that your motor’s warranty is ready to go!

Can you go home with a 5FU pump?

You can go home with the pump. The nurses will tell you how to look after it. 5FU can also be given as a cream to treat some types of skin cancer. If you have 5FU as a cream, your doctor, nurse or pharmacist will tell you more about it.