• limb development;
  • LMX1B;
  • patellar aplasia/hypoplasia;
  • RECQL4;
  • skeletal malformation syndromes;
  • TBX4

Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and bone formation along endochondral ossification pathways, and growth. Several human genes that are important for patella development have been uncovered by the study of human limb malformation syndromes, yet causative genes for many more such disorders await to be identified and their complex interactions in the developmental pathways deciphered. Mutant animal models of congenital patellar aplasia or hypoplasia are certainly instrumental to create more insight into this aspect of limb development. Moreover, investigation of the complete phenotype of human syndromes and animal models may reveal novel insights into the pleiotropic roles of the responsible genes in the normal developmental of other organ systems. In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier–Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome.