Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for "Schwartz-Jampel" syndrome
Did you mean "Schwartz-sample" syndrome?
  1. Schwartz-Jampel syndrome 
    Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  2. HSPG2 gene 
    ... the HSPG2 gene have been found to cause Schwartz-Jampel syndrome. This rare condition is characterized by continuous muscle ... and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  3. Osteochondrodysplasias (Merck & Co., Inc.)  
    Osteochondrodysplasias - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
    https://www.merckmanuals.com/.../osteochondrodysplasias - External Health Links
  4. Stüve-Wiedemann syndrome 
    ... reflex (patellar reflex).Another condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part ... Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used. Stüve-Wiedemann ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. Neuromuscular Disorders (National Library of Medicine)  
    Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
    https://medlineplus.gov/neuromusculardisorders.html - Health Topics
  7. LIFR gene 
    ... inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  8. Cartilage Disorders (National Library of Medicine)  
    Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as ...
    https://medlineplus.gov/cartilagedisorders.html - Health Topics
  9. Achondroplasia 
    ... of a group of conditions called chondrodystrophies or osteochondrodysplasias. These rare genetic disorders cause problems with the ...
    https://medlineplus.gov/ency/article/001577.htm - Medical Encyclopedia