lethal congenital contracture syndrome 1

info · Syndrome

A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.

Signs and symptoms

Skeletal muscle atrophy
Pulmonary hypoplasia
Edema
Abnormality of the amniotic fluid
Widening of cervical spinal canal
Paucity of anterior horn motor neurons
Hypoplasia of the musculature
Arthrogryposis multiplex congenita
Micrognathia
Abnormal thorax morphology

Also known as: LCCS1; multiple contracture syndrome, Finnish type