Disease Information for Miller syndrome/Acrofacial dysostosis

Miller Syndrome; POADS; Disorder Subdivisions ; Acrofacial Dysostosis, Postaxial Type; Acrofacial Dysostosis, Type Genee-Wiedep; Genee-Wiedemann Syndrome; Postaxial Acrofacial Dysostosis; Miller Syndrome, also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder that is apparent at birth (congenital); The disorder is characterized by distinctive craniofacial malformations occurring in association with abnormalities of the outer aspects of the forearms and lower legs (postaxial limb deficiency); Craniofacial malformations may include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue from (colobomas) and/or drooping of the lower eyelids, exposing the conjunctivae, the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (ectropion); In infants and children with Miller Syndrome, limb abnormalities may include incomplete development (hypoplasia), webbing (syndactyly), and/or absence of certain fingers and/or toes (eg, the fifth digits and, in some cases, the fourth and third digits) and/or underdevelopment (hypoplasia) of the bones on the "pinky" side (ulna) and, in some cases, the thumb side of the forearms (radius), causing the forearms to appear unusually short; Additional physical abnormalities may be present in some cases; Miller Syndrome is thought to be inherited as an autosomal recessive genetic trait; [NORD]

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