Conditions / Syndrome
fetal akinesia deformation sequence syndrome 3
info · Syndrome
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
Signs and symptoms
- Downslanted palpebral fissures
- Talipes
- Rocker bottom foot
- Short neck
- Generalized edema
- Fetal akinesia sequence
- Overlapping fingers
- Micrognathia
Also known as: FADS3