Conditions / Syndrome
fetal akinesia deformation sequence syndrome 2
info · Syndrome
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.
Signs and symptoms
- Downslanted palpebral fissures
- Tented upper lip vermilion
- Wide nasal bridge
- Flexion contracture
- Hypotonia
- Respiratory insufficiency
- Hypertelorism
- Decreased fetal movement
- Feeding difficulties in infancy
- High palate
Also known as: FADS2