Congenital disorder characterized by postaxial
acrofacial dysostosis in association with severe postaxial limb
deficiencies. The craniofacial malformations may include malar hypoplasia,
micrognathia, cleft palate, small, protruding, “cup-shaped” ears, eye
colobomas and ptosis, and ectropion. The limb abnormalities include
incomplete hypoplasia, syndactyly, clinodactyly (e.g., the fifth digits and,
in some cases, the fourth and third digits) and hypoplasia of the ulna and
occasionally the radius. It is believed to be transmitted in an autosomal
recessive pattern.