fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; fetal akinesia sequence; arthrogryposis multiplex congenita with pulmonary hypoplasia

Epidemiology

rare

Genetics

• associated with defects in RAPSN

Clinical manifestations

• decreased intrauterine fetal movement
• congenital limb contractures
• pulmonary hypoplasia
• polyhydramnios
• craniofacial abnormalities

More general terms

• genetic syndrome (multisystem disorder)