The facio-genito-popliteal syndrome.
In summary, we have presented data supporting the variable expression of an autosomal dominant gene that produces a spectrum of facial, genital, and musculo-skeletal abnormalities. We are not in the position to completely rule out genetic heterogeneity but on the basis of the data presented we feel confident in stating that the popliteal pterygium syndrome, in most cases, is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.
D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011625:Pterygium / Q000235:genetics*; D013577:Syndrome