Conditions / Syndrome
fetal akinesia deformation sequence syndrome 1
info · Syndrome
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
Signs and symptoms
- Pulmonary hypoplasia
- Congenital contracture
- Wrist flexion contracture
- Cryptorchidism
- Decreased fetal movement
- Polyhydramnios
- Hip contracture
- Hypertelorism
- Low-set ears
- Micrognathia
Also known as: FADS1