Aase Syndrome is a rare genetic disease that causes anemia and poor development of bone marrow. There’s less than two dozen cases reported. One main trait that stands out from others to diagnose this disease is the triphalangeal thumb. Carriers of Aase syndrome are diagnosed during their baby years. Doctors perform a blood transfusion the first year of life, and continue treatment by using steroids. There’s another anemia disease called Blackfan-Diamond syndrome that has similar symptoms such as the abnormalities of the thumb, which arises questions if these diseases are contiguous gene syndrome or even identical conditions. Even through major procedures that may be needed, the end results seem good.

Aase syndrome is a rare genetic disorder that can be diagnosed by a triphalangeal thumb or a certain anemia that causes poor development of the bone marrow, which is where blood cells are formed. Both parents must have it to pass the gene down, but it's not for sure it will be inherited. There's been less than two-dozen cases reported in the medical literature. A lot of symptoms are related to the joints or are skeletal deformities such as pale skin, delayed closure of soft spots, triple jointed thumbs, narrow sloped shoulders, droopy eyelids, deformed ears, cleft palate. Carriers with Aase disease may have difficulty picking objects up and being able to grasp on to them, because of their deformities in their hands. There has also been cases with patients where doctors had found a hole between the two chambers of the heart, which is called a Ventrical Septal Defect (VSD). Several cases of Aase Syndrome carriers also have cleft lip and palate which is when the lip and palate develop separately. Cleft lip palates can be repaired by surgery between the age of 12 and 18 months. The doctor will perform a physical exam. Other tests doctors will do are a Bone marrow biopsy, a Complete blood count (CBC), an Echocardiogram, and X-rays. During the first year of life, doctors will perform a blood transfusion from a matched donor. They have also been known to treat the patients with a steroidal medication called Prednisone. If all else fails, a bone marrow transplant may be necessary. Anemia tends to improve with age. For skeletal abnormalities, patients are usually treated by orthopedic surgery as well as physical and occupational therapy. In fact, there is also a common anemia syndrome called Blackfan–Diamond syndrome (BDS). It has similar symptoms such as abnormalities of their thumbs, and because of that, it rises questions on whether these rare diseases are contiguous gene syndromes or even identical conditions. Even though major procedures such as blood transfusions and corrective surgeries may be needed, the end result seems to be good.