Conditions / Syndrome
lethal congenital contracture syndrome 8
info · Syndrome
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mut
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13.
Signs and symptoms
- Pes cavus
- Distal amyotrophy
- Feeding difficulties
- Distal arthrogryposis
- Hypotonia
- Areflexia
- Peripheral hypomyelination
- Facial diplegia
- Decreased fetal movement
- Distal sensory impairment