Miller Syndrome

Miller Syndrome (also known as postaxial acrofacial dysostosis) is an extremely rare genetic condition that involves multiple physical anomalies. The facial characteristics include downward slanting palpebral fissures (eyelids), the absence of a portion of the lower eyelid and or eyelashes, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Mild to severe hearing loss is usually noted. The hallmark of Miller Syndrome is the absence or malformation of the fifth digits, often involving both the hands and the feet. Limb anomalies include shortened and bowed forearms, incompletely developed ulnar and radius bones, missing or webbed fingers and toes, as well as abnormal growth of the tibia and fibula bones (lower legs). There have been fewer than 75 documented cases of Miller Syndrome world wide.

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