Genetic Disorders Information Center: List of Different types of Genetic Disorders
Pendred Syndrome is a genetic pathological condition which is caused by mutation in gene SLC26A4 in chromosome 7. The mutation in this gene causes progressive hearing loss in children and affects the thyroid gland resulting in goiter. This article deals with details of Pendred Syndrome, its causes, symptoms, treatment and prognosis.
A group of disorders related to the connective tissue in the human eye is termed as Stickler syndrome. Estimation of Stickler syndrome in new borns is from 1 in 7500 to 1 in 9000. Treatment varies from person to person. If the symptoms of stickler syndrome are detectable easily and in early stage, some steps could be taken as prevention. Or else, if the stickler syndrome symptoms are mild or not taken care in the beginning it may lead to more complications.
Dwarfism is a common phenomenon that can be of different types. Not all the dwarfs have the same characteristics and same physical signs of this medical condition. Dwarfism is not a life threatening condition and hence, patients with this medical condition can usually live a normal life span.
LWD or Leri-Weill dyschondrosteosis is a genetic disorder, which is very rare. Leri-Weill dyschondrosteosis is characterized by abnormal shortening of the lower legs and forearms and there is also abnormal misalignment of the wrist (also known as Madelung deformity of the wrist). Know the causes, symptoms, treatment and diagnosis of Leri-Weill dyschondrosteosis.