Tag Archives: Syndrome

Popliteal Pterygium Syndrome

What is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).

People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

How common is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.

What genes are related to popliteal pterygium syndrome?
Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor’s effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.

Chronic Fatigue Syndrome

Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.

Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.

Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. However, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.

While a single cause for CFS may yet be identified, another possibility is that CFS has multiple triggers. Some of the possible causes of CFS might be:

  • infections
  • immune dysfunction
  • abnormally low blood pressure that can cause fainting (neurally mediated hypotension)
  • nutritional deficiency
  • stress that activates the axis where the hypothalamus, pituitary, and adrenal glands interact (the HPA axis)

Sypmtoms
The primary symptom of CFS is unexplained, severe fatigue lasting at least 6 months that is not improved by bed rest and that can get worse after physical activity or mental exertion. Individuals with CFS experience a fatigue so strong that their activity levels and stamina decline dramatically. However, fatigue is not the only symptom, and for some patients may not be the symptom that bothers them the most.

As stated in the 1994 case definition, the fatigue of CFS is accompanied by at least 4 of 8 characteristic symptoms lasting at least 6 months. These symptoms include:

  • post-exertion malaise lasting more than 24 hours
  • un-refreshing sleep
  • significant impairment of short-term memory or concentration
  • muscle pain
  • pain in the joints without swelling or redness
  • headaches of a new type, pattern, or severity
  • tender lymph nodes in the neck or armpit
  • a sore throat that is frequent or recurring

The symptoms listed above are the symptoms used to diagnose this illness. However, many CFS patients may experience other symptoms, including irritable bowel, depression or other psychological problems, chills and night sweats, visual disturbances, brain fog, difficulty maintaining upright position, dizziness, balance problems, fainting, and allergies or sensitivities to foods, odors, chemicals, medications, or noise.