HomeGenetic Disorders Information Center: List of Different types of Genetic Disorders
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Hereditary ATTR Tests: Uses and Procedures
Hereditary amyloid transthyretin (ATTR) amyloidosis is a rare disorder that develops due to a buildup of amyloid proteins in the body. ATTR is a...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Dandy-Walker Syndrome: Causes, Symptoms, Diagnosis, Treatment, Outlook
What is Dandy-Walker Syndrome?Dandy walker syndrome is a congenital condition in which a part of the baby’s brain does not develop properly. This can...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Understanding Autosomal Inheritance : How Traits Are Passed Down from Parents to Offspring
What is Autosomal Inheritance?Autosomal inheritance is a type of inheritance in which a trait or gene is passed on from the parent to the...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Understanding Mandibulofacial Dysostosis: Symptoms, Types, Causes, and Treatment
Mandibulofacial DysostosisDefinition of Mandibulofacial DysostosisMandibulofacial dysostosis is an inherited developmental disorder. It is also known as Teacher Collins Syndrome Its prevalence is estimated to...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Distal Myopathy with Rimmed Vacuoles (DMRV) : Causes, Symptoms, and Treatment Options
What is Distal Myopathy with Rimmed Vacuoles?Distal Myopathy with Rimmed Vacuoles (DMRV), also known as Inclusion Body Myopathy type 2 (IBM2), is a rare...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Primary Immune Deficiency Disorders in Adults : Late-Onset Presentations and Challenges
Primary immune deficiency disorders (PIDDs), also known as Primary immunodeficiency disorders (PIDs), are a group of rare genetic disorders that affect the immune system's...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Understanding Pediatric Sickle Cell Disease : Causes, Symptoms, and Treatment
One in every five hundred African American infants born in the United States is affected by sickle cell disease.(1) Sickle cell disease and its...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Understanding Jansen’s Metaphyseal Chondrodysplasia (JMC) : Causes, Symptoms, and Management
Jansen's metaphyseal chondrodysplasia (JMC) is a rare genetic disorder affecting skeletal development and calcium homeostasis. Although it falls under the broad category of metaphyseal...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Spondyloepiphyseal Dysplasia : A Deep Dive into the Rare Genetic Skeletal Disorder
Spondyloepiphyseal dysplasia (SED) is a term that describes a group of hereditary skeletal disorders characterized by abnormal growth of the vertebrae and epiphyses (end...
Genetic Disorders Information Center: List of Different types of Genetic Disorders
Navigating Congenital Amegakaryocytic Thrombocytopenia (CAMT) : Insights and Management Strategies
IntroductionWhat is Congenital Amegakaryocytic Thrombocytopenia (CAMT)?Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by a severe reduction in platelet production. Platelets are crucial...
