Genetic Disorders Information Center: List of Different types of Genetic Disorders
This condition of fabry disease is inherited from family. If a person is affected by Fabry disease, they must take into account that it is a genetic disease but that its rapid diagnosis will avoid irreversible complications and will help to recognize other potential affected relatives at an early stage.
Currently, some scientific studies have discovered that women are not only carriers of Fabry disease as it was traditionally believed, but, in many cases, women manifest the characteristic signs and symptoms of the disease.
The life expectancy of someone with fabry disease is about 15 to 20 years. Read on to know more.
The signs and symptoms of Marfan syndrome vary widely from person to person. The signs that would suggest that a person may have Marfan syndrome are disproportionately long limbs – arms, legs and even fingers, flexible joints, abnormally tall, slender structure or build, flat feet, crowded teeth among others. With an early treatment, medicines and surgical support, most of the Marfan syndrome patients can live as long as a healthy human being.
Ever heard of the rare genetic disorder called Beals syndrome? Want to know all about the disease? Only recently has Beals syndrome been described as a disorder different from Marfan's syndrome. To know more about Beals syndrome, its symptoms, causes and treatment, go through the following piece of read.
Pierre Robin Syndrome which is most commonly referred to as Pierre Robin Sequence is a chain of congenital developmental malformations in which one malformation is followed by the other in a sequence and hence the name Pierre Robin Sequence. This condition is characterized by an abnormally small jaw, a tongue which is displaced downwards, and a cleft palate. Know the causes, symptoms, treatment of Pierre Robin Syndrome.
Rett syndrome is a rare, severe neurological disorder that affects mostly girls. It is usually discovered in the first two years of the child’s life. Earlier, Rett syndrome was believed to be part of the Autism Spectrum Disorder, but now it is considered to be a genetic disorder. Know the causes, symptoms, treatment and management of Rett Syndrome.
SAPHO Syndrome is the name given for a combination of disorders involving the skin, bones, and joints. If the patient is responsive to medications like methotrexate or rituximab, then the overall prognosis is quite good for individuals with SAPHO Syndrome. Know what is SAPHO Syndrome, its causes, symptoms, treatment, prognosis and diagnosis.
Hyperostosis Frontalis Interna is an inherited pathological condition which is characterized by thickening of the frontal bone of the skull. This condition is believed to be seen mostly in females. Hyperostosis Frontalis Interna is found to be associated with many different conditions like seizure disorder, migraine headaches, obesity, diabetes insipidus, excessive hair growth, and abnormality in the function of the sex glands. Know the causes, symptoms, treatment of Hyperostosis Frontalis Interna.
Abetalipoproteinemia or ABL is a medical condition that obstructs the body from absorbing some dietary fats completely. If it is left untreated, it causes vitamin deficiency that can affect your health. Abetalipoproteinemia is a gene related problem. People affected with abetalipoproteinemia experience muscle weakness, difficulty in walking, neurological deterioration, loss of vision and blood abnormalities. Treatment for this disorder is available and doctors can help to regain vision, mental clarity, and muscle function.
Bethlem myopathy is a rare disease that affects the connective tissues and the skeletal muscles as well. Bethlem myopathy is characterized by increasing levels of muscle weakness along with joint stiffness in the wrists, fingers, ankles, and elbows. In this article we will see what Bethlem Myopathy is, its causes, symptoms, diagnosis and treatment.