It is a genetic disorder charecterized by presence of three bones with in the thumbs and reduced production og the red blood cells leading to hypoplastic anemia. It can be detected in early infancy. The cause is not known. It is an autosomal recessive trait.

The anemia that is associated with Aase syndrome is a result of underdevelopment of the bone marrow, where blood cells are formed.

It is also known as

• Anemia and triphalangeal thumbs
• Congenital anemia and triphalangeal thumbs
• Hypoplastic anemia-triphalangeal thumbs, Aase-Smith type.
• Diamond-Blackfan anemia.

Signs of Aase smith syndrome II

• Triphalangeal thumbs.
• Growth retardation.
• Cleft lip or palate.
• Ventricular septal defects.
• Narrow and sloping shoulders.
• Pallor.
• Deformed ears.
• Droopy eye lids.
• Cardiac defect.
  

Tests and diagnosis

• Complete blood count to detect anemia.
• Bone marrow biopsy.
  
• X-ray of hands to see three phalanges of thumb instead of normal which will have two phalanges.

Treatment

• Blood transyfusions.
• Bone marrow transplantations.