Aase Syndrome (Aase-Smith Syndrome)

Aase syndrome, also known as Aase-Smith syndrome, is a rare disorder which is mainly characterized by anemia, due to underdeveloped bone marrow, and skeletal deformities. The other symptoms include pale skin, narrow shoulders, delayed closure of fontanels, absent or small knuckles, triple jointed thumbs, inability to fully extend joints, deformed ears, droopy eyelids, and cleft palate. Around 45% of the reported cases were tested and found to be inherited while the others had unknown causes. This syndrome is named after Jon Morton Aase and David Weyhe Smith who first described it in 1968.