Psaume Syndrome (Orofaciodigital Syndrome Type I): A syndrome with X-linked dominant
transmission or sporadic (75%) occurrence with oral (tongue and dental
anomalies, cleft lip/palate), facial (hypertelorism, telecanthus,
micrognathia), digital (brachydactyly, syndactyly, duplication of hallux),
cerebral (cerebellar atrophy, agenesis of the corpus callosum, Dandy-Walker
malformation, mild mental retardation), and renal anomalies (polycystic
kidney disease). Almost all affected patients are females, although some
affected males have been reported.