An arthrogryposis and unusual ectodermal
dysplasia/ malformation syndrome, including generalized bronchodysplasia, dry
skin with scaling, hyperchromic spots on the limbs, hyperkeratosis
(particularly the soles), dermatoglyphic abnormalities, dwarfism, bilateral
cataracts, narrow palpebral fissures, and kyphoscoliosis. Other clinical features
include microcephaly, brachycephaly, amyotrophy (muscle), and a high
incidence of diabetes mellitus.