Conditions / Nervous system
arthrogryposis multiplex congenita-6
info · Nervous system
An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound het
An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
Signs and symptoms
- Decreased fetal movement
- Respiratory failure
- Akinesia
- Nemaline bodies
- Arthrogryposis multiplex congenita
- Polyhydramnios
- Hypospadias
- Increased variability in muscle fiber diameter
- Adducted thumb
- Large fontanelles