Conditions / Syndrome
lethal congenital contracture syndrome 9
info · Syndrome
A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement that has_material_basis_in homozygous mutation in the GPR126 gene on chromosome 6q24.
Signs and symptoms
- Arthrogryposis multiplex congenita
- Talipes equinovarus
- Micrognathia
- Myopathy
- Polyhydramnios
- Congenital contracture
- Decreased fetal movement
- Intrauterine growth retardation
- Low-set ears
- Pulmonary hypoplasia