The following Conditions are related to Hypotonia

Select a specific condition below to view its details.

  • Camptomelic syndrome

    "Camptomelic syndrome is a rare genetic disorder that affects the development of certain bones in the body. It is most commonly found in children, but it can also affect adults. Camptomelic syndrome is diagnosed through a physical exam, and it can be confirmed with X-rays and/or CT scans. Camptomelic syndrome is caused by a mutation in the FGFR2 gene. This gene controls how your body grows bones, especially those of the hands and feet. When a pe  Read More

  • Dmc syndrome

    DMC syndrome is a rare genetic disorder that affects about 1 in 2,500 people. It's characterized by a combination of developmental, muscular and connective tissue disorders that generally appear in early childhood. 1. The condition can cause abnormalities in your body's tissues and organs, including the heart, muscles and bones. It can also affect your blood vessels and nerves. These health issues can make it diff  Read More

  • Fiber type disproportion, congenital

    Congenital fiber type distortion (CFTD) is a genetic disorder. Mutations in multiple genes have been suspected; some have been identified, while some are yet to be defined. The mutations lead to the decreased size of type 1 muscle fibers. The disease causes significant clinical changes when the type 1 fibers are smaller by 12 % of the size of type 2 fibers. Risk factors 1. CFTD follows the three patterns of  Read More

  • Le jeune syndrome

    Le jeune syndrome is a rare genetic disorder that affects the development of bones and joints, as well as the function of the heart and lungs. It is caused by a mutation in the JAG1 gene, which can affect any organ system in the body. There are several risk factors that can increase your chances of developing Jeune syndrome. 1. Family history: The first is having a family history of the condition. If  Read More