fetal encasement syndrome

A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.

Signs and symptoms

• Absent ossification of calvaria
• Lower limb undergrowth
• Abnormal nasal morphology
• Scoliosis
• Abnormal lung lobation
• Intracranial cystic lesion
• Decreased fetal movement
• Hypoplasia of the musculature
• Microphthalmia
• Omphalocele

Also known as: cocoon syndrome