Aase-Smith Syndrome
From WikiGenetics
Contents |
[edit] Name of Condition
Aase-Smith Syndrome
[edit] Definition
A rare disorder that involving anemia abnormalities and certain joint and skeletal deformities.
[edit] Description, Signs and Symptoms
Absent or small knuckles Cleft palate (Aase-Smith syndrome type I) Decreased skin creases at finger joints Deformed ears Delayed closure of fontanelles (soft spots) Droopy eye lids Inability to fully extend the joints from birth (contracture deformity) Mildly delayed growth Narrow shoulders Pale skin Triple-jointed thumbs (Aase-Smith syndrome type II)
The anemia that is associated with Aase syndrome is a result of underdevelopment of the bone marrow, where blood cells are formed.
[edit] Inheritance
While the exact cause of Aase syndrome is unknown, there is evidence suggesting that the disorder is inherited as an autosomal recessive trait.
[edit] Diagnosis
Some tests that can be performed are: bone marrow biopsy, complete blood count (CBC), X-rays, or Echocardiogram.
[edit] Treatment and Management
For the anemia associated with the syndrome, blood transfusions may be given in the first year of life.
A bone marrow transplant may be necessary if other treatments do not work.
[edit] Prognosis
The anemia typically improves with age.
[edit] References
Aase-Smith Syndrome. Wikipedia http://en.wikipedia.org/wiki/Aase-Smith_syndrome
Medline Plus, Medical Encyclopedia. http://www.nlm.nih.gov/medlineplus/ency/article/001662.htm
