Conditions / Syndrome
lethal congenital contracture syndrome 2
info · Syndrome
A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.
Signs and symptoms
- Skeletal muscle atrophy
- Polyhydramnios
- High myopia
- Edema
- Decreased fetal movement
- Arthrogryposis multiplex congenita
- Respiratory failure
- Akinesia
- Degenerative vitreoretinopathy
- Micrognathia
Also known as: LCCS2; multiple contracture syndrome, Israeli-Bedouin type