It is a rare inherited disorder charecterized by anemia withjoint and skeletal deformities. It is an autosomal dominant inherited disorder. The cause is not known. The anemia in this syndrome is caused by underdevelopment of the bone marrow whre the blood cells are formed.

It is charecterized by the following symptoms

• Mild slow growth.
• Pallor.
• Delayed close of fontanelles.
• Narrow shoulders.
• Cleft palate.
• Deformed ears.
• Drooping eye lids.
• Triple jointed thumbs.
• Absent or small knuckles.
• Decreased skin creases at finger joints.
• Inability to extend the joints to the full extent from birth (congenital cointractures).

Tests and diagnosis

• Complete blood count to see anemia and decrease whilte blood cell.
• Echocardiogram to see heart defects.
• X-rays to see skeletal abnormalities.
• Bone marrow biopsy.

Treatment

• Frequent blood transfusions.
• Prednisone
• Bone marrow transplantation.

Complications

• Complications of anemia like weakness, fatigue, decreased oxygenation.
• Decreased white blood cells affects immunity.
• Heart defects.
• Still births and deaths.