Aase syndrome
Aase Syndrome
Aase Syndrome (pronounced: /ɑːseɪ/), also known as Aase-Smith Syndrome or Aase's Syndrome, is a rare, genetically inherited disorder characterized by anemia and certain joint and skeletal deformities.
Etymology
The syndrome is named after the American pediatrician and geneticist, Jon Morton Aase, who first described the condition in 1968. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Definition
Aase Syndrome is a rare genetic disorder that primarily affects the production of red blood cells (anemia) and the development of certain bones and joints. The most common symptoms include Triphalangeal thumbs, Anemia, and Joint contractures.
Symptoms
The symptoms of Aase Syndrome can vary greatly from person to person. However, the most common symptoms include:
- Triphalangeal thumbs: This is a condition where the thumb has three phalanges instead of the usual two.
- Anemia: This is a condition characterized by a deficiency of red blood cells or of hemoglobin in the blood.
- Joint contractures: This is a condition that leads to shortening and hardening of the muscles, tendons, or other tissue, often leading to rigidity and deformity of the joints.
Diagnosis
Diagnosis of Aase Syndrome is typically based on a clinical evaluation, a detailed patient history, and specialized tests. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Aase Syndrome is symptomatic and supportive. This may include blood transfusions for anemia and physical therapy for joint contractures.
Prognosis
The prognosis for individuals with Aase Syndrome varies. Some individuals may have mild symptoms and live a normal life span, while others may experience severe complications.
See Also
External links
- Medical encyclopedia article on Aase syndrome
- Wikipedia's article - Aase syndrome
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