Miller acrofacial dysostosis is thought to be inherited as an autosomal recessive trait and is apparent
at birth. It is characterized by postaxial acrofacial dysostosis, which is
defined by its postaxial limb deficiency. Craniofacial malformations, malar
hypoplasia, severe micrognathia, cleft palate, small, protruding,
“cup-shaped” ears, colobomas, drooping of the lower eyelids, and ectropion
are seen. The limb abnormalities in infants and children may include severe
hypoplasia, syndactyly, and/or absence of certain fingers and toes (e.g.,
fifth digits and, in some cases, fourth and third digits). Hypoplasia of the
ulna and radius causes the forearms to appear unusually short.