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Diamond-Blackfan Anemia 6
Aase syndrome, Aase Smith Syndrome II
Overview
Type of disease: Rare conditions
Aase Syndrome is a rare genetic disorder characterized by hypoplastic anemia, and joint and skeletal deformities. The most prominent joint deformity is the presence of three bones within the thumb, known as a triphalangeal thumb. In Aase Syndrome, the anemia is due to poor development of bone marrow [the center for production of red blood cells]. Other symptoms associated with this disorder include the absence of/or small knuckle bones, contracture deformities associated with the joints, decreased skin creases at finger joints, and a cleft palate. The exact causes of Aase Syndrome are unknown, but recent evidence suggests that the condition can be inherited as an autosomal recessive trait.
Support Organizations
- PID UK General Support Organization
- Tracheo-Oesophageal Fistula Support General Support Organization
- Friend for Life Cancer Support Network General Support Organization
