fetal akinesia deformation sequence syndrome 4

info · Syndrome

A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.

Signs and symptoms

Wide nasal bridge
Arthrogryposis multiplex congenita
Decreased fetal movement
High palate
Retrognathia
Cryptorchidism
Low-set ears
Micrognathia
Posteriorly rotated ears
11 pairs of ribs

Also known as: FADS4