joubert syndrome

Joubert Syndrome: Causes, Symptoms & Treatment

Joubert syndrome is characterized by a congenital malformation of the brain stem as well as agenesis (inhibition malformation, lack of attachment, for example, cerebral bar, vermiform appendix). There may also be hypoplasia (underdevelopment) of the cerebellar vermis. Patients suffering from this autosomal recessive genetic defect exhibit abnormal respiratory behavior and ataxia, among other symptoms. What … Joubert Syndrome: Causes, Symptoms & Treatment

Holoprosencephaly: Causes, Symptoms & Treatment

Holoprosencephaly is a malformation of the human brain that occurs with relatively high frequency. A large proportion of affected embryos die in the womb. Therefore, only a few patients with holoprosencephaly are born alive. Holoprosencephaly forms prenatally and primarily affects the face and the frontal area of the brain. What is holoprosencephaly? Holoprosencephaly is relatively … Holoprosencephaly: Causes, Symptoms & Treatment

Brown-Vialetto-Van Laere Syndrome: Causes, Symptoms & Treatment

Brown-Vialetto-Van Laere syndrome is a disease that is inherited. As part of the disease, the function of various caudal nerves in the brain is lost. Furthermore, affected patients lose their sense of hearing. In addition, a so-called spinal atrophy of the musculature develops in some of the affected individuals. What is Brown-Vialetto-Van Laere syndrome? Brown-Vialetto-Van … Brown-Vialetto-Van Laere Syndrome: Causes, Symptoms & Treatment