Orofaciodigital syndrome with mesomelic limb shortening.
Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000235:genetics*; D010375:Pedigree