- Which of the following is an autosomal dominant disorder affects the nervous system of the body?
- How is Robinow syndrome treated?
- What is Noonan syndrome?
- What is aarskog Scott syndrome?
- How many people have aarskog?
- What body system does Robinow syndrome affect?
- What is the charge Syndrome?
- What is the rarest disease known to man?
- What causes Fraser syndrome?
Which of the following is an autosomal dominant disorder affects the nervous system of the body?
Neurofibromatosis, Huntington’s disease, and myotonic dystrophy are three hereditary disorders affecting the nervous system..
How is Robinow syndrome treated?
In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.
What is Noonan syndrome?
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
What is aarskog Scott syndrome?
Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.
How many people have aarskog?
An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
What body system does Robinow syndrome affect?
Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body. There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated with them.
What is the charge Syndrome?
Description. Collapse Section. CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
What is the rarest disease known to man?
Water allergy. … Foreign accent syndrome. … Laughing Death. … Fibrodysplasia ossificans progressiva (FOP) … Alice in Wonderland syndrome. … Porphyria. … Pica. … Moebius syndrome. Moebius is extremely rare, genetic and characterized by complete facial paralysis.More items…•
What causes Fraser syndrome?
Fraser syndrome is caused by mutations in three different genes : FRAS1, GRIP1, and FREM2 and is inherited in an autosomal recessive manner. This condition is diagnosed based on signs and symptoms. Genetic testing may be useful to confirm the diagnosis.