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Glossary for Tranebjaerg-Svejgaard syndrome

  • Dry skin: Dryness of the skin.
  • Epilepsy: Brain condition causing seizures or spasms.
  • Intellectual or developmental disabilities: Disorders of physical or intellectual development.
  • Mental Retardation, X-Linked: A group of inherited disorder characterized by mental retardation. The disorders are inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The mental retardation may occur on its own (nonsyndromic) or be associated with other abnormalities (syndromic). The severity of the mental retardation may vary between and even within disorders.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mental retardation conditions: Medical conditions related to or causing mental retardation.
  • Mouth held open: Mouth held open refers to a condition in which the mouth remains open.
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Ocular weakness: Weakness of the ocular muscles.
  • Psoriasis: Psoriasis is an inflammatory skin condition where the defective immune system causes skin cells to grow rapidly. It affects a significant number of people. Arthritis, which can be severe, is associated with the psoriasis in up to a third of cases. Not all patients who are susceptible to the condition will develop it - roughly 10% of those susceptible will actually develop the condition. There are various environmental factors which can trigger the onset of the disease e.g. strep throat (common trigger), some medication, stress and cold weather. Once the disease develops, it may resolve on its own or with treatment or may become a persistent chronic condition. The severity and duration of symptoms is variable.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Skin conditions: Any condition that affects the skin
  • Speech symptoms: Problems with speech or voice.

 

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