Conditions / Syndrome
lethal congenital contracture syndrome 7
info · Syndrome
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21.
Signs and symptoms
- Distal arthrogryposis
- Fetal akinesia sequence
- Skeletal muscle atrophy
- Cerebral atrophy
- Polyhydramnios
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Hypotonia
- Areflexia
- Generalized hypotonia