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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 (e.g., 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.
Credit to - www.rarediseases.org
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