fetal akinesia deformation sequence syndrome (DOID:0111375)
Alliance: disease page
Synonyms: arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; fetal akinesia sequence; foetal akinesia deformation sequence syndrome; foetal akinesia sequence; Pena-Shokeir syndrome type 1
Alt IDs: MESH:C536647, NCI:C129071, OMIM:PS208150, ORDO:994, UMLS_CUI:C1276035
Definition: A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.