Pashayan syndrome

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Pashayan syndrome, also known as Pashayan–Prozansky Syndrome and blepharo-naso-facial syndrome, is a rare syndrome. Facial abnormalities characterise this syndrome as well as malformation of extremities.[1] Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.[2]

A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or "Van Maldergem–Wetzburger–Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome.[3][4][5]

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Contributors: Prab R. Tumpati, MD