Press "Enter" to skip to content

Which of the following refers to the simultaneous presence of two or more disorders in one person?

Comorbidity is a term that doctors use to describe the simultaneous presence of two or more diseases or disorders within the same person.

Which of the following is often called common cold of psychological disorders?

Depression is commonly referred to as the “common cold” of mental illness.

What is the rarest medical condition?

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

What are examples of rare diseases?

Examples of rare diseases caused by mutations in single genes include cystic fibrosis, which affects the respiratory and digestive systems (See: Learning About Cystic Fibrosis); Huntington’s disease, which affects the brain and nervous system (See: Learning About Huntington’s Disease); and muscular dystrophies, which …

What is a rare genetic syndrome?

KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.

What are the top 10 genetic disorders?

Genetic disorders

  • Albinism. Albinism is a group of genetic conditions.
  • Angelman syndrome. A rare syndrome causing physical and intellectual disability.
  • Ankylosing spondylitis.
  • Apert syndrome.
  • Charcot-Marie-Tooth disease.
  • Congenital adrenal hyperplasia.
  • Cystic fibrosis (CF)
  • Down syndrome.

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 does someone with Noonan syndrome look like?

People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum ), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward.

What is another name for Noonan syndrome?

From Wikipedia, the free encyclopedia. Noonan syndrome. Other names. Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome.

What is Noonan syndrome life expectancy?

Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.

What is the difference between Noonan syndrome and Turner syndrome?

However, there are many important differences between the two disorders. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome.

What can be done for a person with Noonan syndrome?

How Is Noonan Syndrome Treated?

  • Medicines and surgery can help heart problems.
  • Medicines or blood transfusions can treat bleeding.
  • Growth hormone can help speed up slow growth.
  • Surgery can correct undescended testicles.
  • Education programs can help a child who has trouble learning.

Is there a treatment for Noonan syndrome?

There’s currently no single treatment for Noonan syndrome, but it’s often possible to successfully manage many aspects of the condition. For example, severe heart defects may need to be repaired with surgery, and growth hormone medication may be used to help prevent restricted growth.

How do they test for Noonan syndrome?

In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test won’t rule out Noonan syndrome.

At what age is Noonan syndrome diagnosed?

A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn’t diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition.

Does Noonan syndrome affect behavior?

behavioural problems – some children with Noonan syndrome may be fussy eaters, behave immaturely compared to children of a similar age, have problems with attention and have difficulty recognising or describing their or other people’s emotions.