Aase Syndrome

Aase syndrome is very rare. It is characterized by hypoplastic anemia (reduced production of red blood cells) and malformative defects especially know for triphalangeal thumbs (three bones in the thumb in stead of two such as in fingers).

Signs of Aase Syndrome

• Triphalangeal thumbs
• growth retardation
• cleft lip or palate
• ventricular septal defects
• narrow and sloping shoulders
• pale skin
• deformed ears
• droopy eye lids
• cardiac defect

Treatment of Aase Syndrome

Treatment includes blood transfusions to treat the anemia. Surgeries may be required to correct birth defects.