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Stuve-Wiedemann Syndrome - MedlinePlus Genetics

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Last Updated: 28 March 2022

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Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome is a chronic illness that is characterized by bone abnormalities and impairment of the autonomic nervous system, which regulates voluntary body functions such as breathing rate and body temperature control. Even when the body temperature is not elevated or have a reduced ability to feel pain, impacted infants can also sweat excessively. Many babies with this disorder do not live past infancy due to the difficulties regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adulthood or later. In addition, leg bowing worsens, children with Stüve-Wiedemann syndrome may have prominent joints, an abnormal curve of the spine, and spontaneous bone fractures. Another disorder once known as Schwartz-Jampel syndrome type 2 is now diagnosed as part of Stüve-Wiedemann syndrome. Researchers have suggested that the term Schwartz-Jampel syndrome type 2 no longer be used.

Source link: https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome


Schwartz-Jampel syndrome

Schwartz-Jampel syndrome is a rare condition with permanent muscle stiffness and bone abnormalities known as chondrodysplasia. Both muscle stiffness or chondrodysplasia may appear first. Individuals affected by the eyelids may also be nearsighted and suffer abnormal blinking or spasms of the eyelids. The long bones may also be abnormally curved. A prominent chest, abnormal spine curve, flattened bones of the spine, and joint abnormalities that restrict mobility are all typical of Schwartz-Jampel syndrome. Two forms of Schwartz-Jampel syndrome were first described by researchers. Type 1 has the signs and symptoms listed above, while type 2 has more frequent bone abnormalities and other health problems, and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is a condition called Stüve-Wiedemann syndrome, which is caused by mutations in a specific gene.

Source link: https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions