The Aase-Smith syndrome.
A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy-Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002972:Cleft Palate / Q000235:genetics; D003286:Contracture / Q000151:congenital; D003616:Dandy-Walker Syndrome / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome