PT Master Guide

Aase syndrome or Aase-Smith syndrome

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In this article we will discuss about Aase syndrome or Aase-Smith syndrome. So let’s get started.

It is a rare autosomal recessive inherited disease characterized by anemia and musculoskeletal deformities. It is named after American paediatrician Jon Morton Aase and David Weyhe Smith who described it in 1968. Symptomatically characterized by slow growth, pale skin, delayed closure of fontanelles, narrow shoulders, triple jointed thumbs, absent or small knuckles, decreased skin crease at interphalangeal joints (fingers), congenital contractures, cleft palate, deformed ears and droopy eyelids. Treatment includes frequent blood transfusion, Prednisone ( contraindicated in infancy) and bone marrow transplant if other treatment does not work.