Aase syndrome

Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal recessive inherited disorder.[1] The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

Aase syndrome
Other namesHydrocephalus-cleft palate-joint contractures syndrome

It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith, who characterized it in 1968.[2]

Signs and symptoms
  • Mildly slowed growth
  • Pale skin
  • Delayed closure of fontanelles (soft spots)
  • Narrow shoulders
  • Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
  • Inability to fully extend the joints from birth (congenital contractures)
  • Cleft palate
  • Deformed ears
  • Droopy eyelids

Complications
  • Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
  • Decreased white blood cells alter the body's ability to fight infection.
  • If a heart defect exists, it may cause multiple complications (depending on the specific defect).
  • Severe cases have been associated with still birth or early death.

Cause

Some cases of Aase syndrome (45%) have been shown to be inherited, and are due to a change in one gene which makes ribosomal proteins. However, many cases are not inherited and occur without a known cause.[3]

Diagnosis

Prevention

As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.

Treatment

Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

Prognosis

Anemia usually resolves over the years.

gollark: https://xkcd.com/936
gollark: This is where the advice to have complex passwords come from, although it's actually terrible because "arbitrary dictionary word plus some weird characters" is low entropy.
gollark: If your password contains enough random information in some way, it takes unreasonable amounts of computing time/attempts to bruteforce, so you can't really.
gollark: This is called "brute force".
gollark: So, a significant danger for passwords is that someone might have the ability to try *lots* of possibilities *very fast* and eventually find the right one.

References
  1. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aase%20Syndrome "Aase Syndrome"
  2. Aase JM, Smith DW (1968). "Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome". J Pediatr. 73 (4): 606–9. doi:10.1016/S0022-3476(68)80278-1. PMID 5678002.
  3. "Aase syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2019-04-19.
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.