Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome (PAPPAS)

Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome, also known as autosomal recessive amelia, is related to rabin-pappas syndrome and foveal hypoplasia-presenile cataract syndrome. An important gene associated with Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome is TBX4 (T-Box Transcription Factor 4). Affiliated tissues include bone and lung, and related phenotypes are full cheeks and cryptorchidism