Conditions / Syndrome
lethal congenital contracture syndrome 11
info · Syndrome
A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome
A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome 15q21.
Signs and symptoms
- Polyhydramnios
- Decreased fetal movement
- Pulmonary hypoplasia
- Flexion contracture of finger
- Flexion contracture
- Distal arthrogryposis
- Camptodactyly
- Microretrognathia
- Intrauterine growth retardation
- Retrognathia