Aase–Smith syndrome
| Aase–Smith syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | GroupMajor.minor |
| ICD-9 | xxx |
| OMIM | 147800 type I, 105650 type II |
| DiseasesDB | 29332 |
| MedlinePlus | 001662 |
Aase-Smith syndromes are deformities occurring in males characterised by a decreased production (hypoplasia) of red blood cells leading to anemia as well as certain joint contractures. They are named after Jon Morton Aase and David Weyhe Smith.[1]
Contents |
[edit] Causes
It occurs without a known reason. However, most cases of Aase syndrome are not inheritable. [2]
[edit] Symptoms
- Triple-jointed thumbs
- Pale skin
- Decreased skin creases at finger joints
- Deformed ears
- Narrow shoulders
- Inability to fully extend the joints from birth
- Droopy eyelids
- Cleft palate
- Absent/small knuckles
[edit] Treatment
Blood transfusions are given in the first year of life to treat anemia. Prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
If other treatment fails, a bone marrow transplant may be necessary .
[edit] Complications
Complications related to anemia include:
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of Aase syndrome have been associated with stillbirth.
[edit] References
- ^ Aase-Smith syndrome at Who Named It?
- ^ "Aase Syndrome". Retrieved 2009-11-22
