Aase syndrome
Aase syndrome, Aase syndrome Symptoms, Aase syndrome Treatment Centers, Diseases, Symptoms, Treatments June 14th, 2008
Definition
A rare disorder Aase syndrome is also known as Congenital Anemia or Triphalangeal Thumb syndrome. Though the genetic root of this disease is not known, the under development of the bone marrow causes anemia. There are also skeletal deformities and the growth during childhood is poor. However, there is no mental retardation or neurological problem associated with this problem.
Causes, incidence, and risk factors
There is no known cause or reason for this disease which is very rare. Though it is not passed down generations in the same family, it shows some traits that are inherited as an autosomal dominant or recessive one. This means that the gene which is abnormal could be inherited from either one of the parents, and one of the parents could have the disease. Of the 22 chromosomes which are non sex ones from any one of the parents could be the abnormal gene.
The risk factors involved are the complications which could arise with the anemia like the decreases oxygen in the blood supply, weakness and fatigue. There could be heart problems because of the several birth defects which could lead to more number of health problems and complications. Often still births and death at a young age are associated with severe cases of this syndrome.
Aase syndrome Symptoms
This rare syndrome involves multiple birth defects and two of the major ones which can help diagnose this disease are TPT and CHA. Apart from this the many physical features of this disease are thumbs with triple joints; skin which is very pale; shoulders which are narrow; growth which is slow; contracture deformity or the inability to stretch the joints; eyelids which are droopy and ears which are deformed; the closing of the fontanel is delayed; a cleft palate; small knuckles or knuckles which are absent and less creases at the joints of the fingers.
Aase syndrome Signs and tests
Some of the signs which will show are a decrease in the count of the white blood cells and anemia which will show in a complete blood count. The most common heart defect for such persons is a ventricular septal which will show up in the echocardiogram. A biopsy done on the bone marrow and an x-ray for the skeletal defects will further show further signs.
Aase syndrome Treatment
Blood transfusions need to be given frequently to treat the anemia when the child is within a year old. If this fails then a bone marrow transplant could be necessary. Prednisone is also given, but not during infancy as it could cause side effects on the growth and in the development of the brain.
Aase syndrome Treatment Centers
- Henry Ford Hospital, Detroit
- Genetic and rare disease information centre, Gaithersburg, MD 20898-8126
Expectations (prognosis)
The anemia tends to get resolved as the child develops over the years.
Complications
If there are existing heart defects this could lead to further problems and complications; the body does not have the ability or the immunity to fight against infections because of the low white cell count; anemia causes fatigue, exhaustion and less amount of oxygenation in the blood and severe problems could lead to death.
Calling your health care provider
Your healthcare provider needs to be called if your child shows any signs of the Aase syndrome and you would also need genetic counseling if there has been a prior history in the family of this syndrome.
Aase syndrome Prevention
There is no way that this could be prevented just like any other genetic problem. Only prompt treatment for the low count of the white blood cells and anemia can help in the child leading a more meaningful life.
About
A well researched article indeed! But does the condition call for any dietary modifications or can any particular foods help to increase immunity or increase the white blood count?