A clinically and genetically heterogeneous constellation of congenital abnormalities that include fetal akinesia, intrauterine growth retardation, arthrogryposis, lung hypoplasia, CLEFT PALATE; and CRYPTORCHIDISM. It is associated with mutations in the DOK7, MUSK, and RAPSN genes. OMIM: 208150
Also Known As:
Pena Shokeir syndrome, type 1; Arthrogryposis multiplex congenita pulmonary hypoplasia; Arthrogryposis multiplex congenita with pulmonary hypoplasia; Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings; Fetal akinesia deformation sequence; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir Syndrome, Type I