Multiple pterygia are seen in many types of lethal forms of AMC [15,16,17,18], but only three genes have been associated with non-lethal MPS or Escobar syndrome, namely CHRNG, MYH3, and TPM2. One explanation might be the exclusive or predominant expression of these genes during development and their lack or diminished expression postnatally, whereas other genes seem to be pre- and postnatally expressed. Here, TPM2 is linked to autosomal recessive multiple pterygium syndrome.