Genetic Disorders Information Center: List of Different types of Genetic Disorders
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.
Degos Disease is also known as Malignant Atrophic Papulosis. Degos disease causes endovasculitis - which means inflammation of the inner walls of the blood vessels. This, in turn, leads to occlusions in the smooth blood flow. Degos disease has been studied to mainly affect arteries that are generally smaller and not of high capacity. It is a highly progressive disease that leads to problems such as skin cell death (infarction) and of other tissues later on. Know the Causes, signs, symptoms, treatment and diagnosis of Degos Disease. Know what happens in a Degos disease and who is at risk.
Acrogeria is one of the very few premature aging diseases that are present in the patients congenitally and it affects the skin on the hands and legs. As with most of these extremely rare disorders, the exact cause of Acrogeria is unknown but from the studies, the disease is shown to have genetic causes but not familial ones. As of now, there is no known treatment for Acrogeria. However, this isn’t a major problem considering that Acrogeria has an excellent prognosis.
Many people are unaware of this condition and often wonder as to what is Williams Syndrome. Williams-Beuren syndrome, commonly known as Williams syndrome, is a rare genetic disorder which causes multiple developmental problems. Certain cardiac problems, blood vessels issues, musculoskeletal disorders and learning disabilities arise as a result of Williams syndrome. Know the causes, diagnosis, treatment and complications of Williams Syndrome.
Hereditary Multiple Osteochondromas is an extremely rare genetic pathological condition the characteristics of which include development of benign bone tumors covered with cartilage. Know the causes, symptoms, treatment and diagnosis of Hereditary Multiple Osteochondromas.
Christmas Disease or Hemophilia B is an extremely rare genetic pathological disorder characterized with abnormality in blood clotting. In majority of the cases, this is an inherited condition. Know the causes, symptoms, treatment and diagnosis of Christmas Disease or Hemophilia B.
Binder Type Nasomaxillary Hypoplasia is an extremely rare congenital developmental disorder mainly characterized by an underdeveloped middle portion of the face to include the area around the nose and the upper jaw. Know the causes, symptoms, treatment and diagnosis of Binder Type Nasomaxillary Hypoplasia.
Mulibrey Nanism is an extremely rare genetic pathological condition which is characterized by significant growth delays and significant abnormalities of the muscles, liver, brain, and eyes. The term MULIBREY stands for Muscles, Liver, Brain, and Eye. Know the causes, symptoms, treatment for Mulibrey Nanism.