Tag: awareness campaigns

  • Trisomy 13 Syndrome

    Trisomy 13 Syndrome

    Explore the complexities of Trisomy 13 Syndrome, a rare genetic disorder characterized by the presence of an extra 13th chromosome. This blog post delves into its causes, symptoms, diagnosis, and treatment options, while also addressing common misconceptions and emphasizing the importance of support for affected families. Join us in raising awareness and improving outcomes for…

  • Sphingolipidosis, Krabbe’s Type

    Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…

  • Cleft Lip

    Cleft Lip Definition and Description of Cleft Lip Cleft lip is a congenital condition characterized by an opening or gap in the upper lip, which can occur on one or both sides of the mouth. It results from the failure of the lip tissue to fully close during fetal development. Cleft lip can vary in…

  • Bullosa Hereditaria

    Bullosa Hereditaria Definition and Description of Bullosa Hereditaria Bullosa Hereditaria, also known as Epidermolysis Bullosa (EB), is a group of rare genetic skin disorders characterized by fragile skin that blisters easily. The term refers to a set of inherited conditions where mutations in specific genes cause the skin to be unable to withstand normal friction…