lethal congenital contracture syndrome 6

A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that has_material_basis_in homozygous mutation in the ZBTB42 gene on chromos

A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that has_material_basis_in homozygous mutation in the ZBTB42 gene on chromosome 14q32.

Signs and symptoms

• Polyhydramnios
• Congenital contracture
• Decreased fetal movement
• Arthrogryposis multiplex congenita
• Absence of stomach bubble on fetal sonography
• Macrocephaly