congenital contracture syndrome; Israeli Bedouin multiple contracture syndrome

Pathology

• specific neuropathology with degeneration of anterior horn neurons

Genetics

• autosomal recessive

Clinical manifestations

• early fetal hydrops
• akinesia
• Pena-Shokeir phenotype
• extreme skeletal muscle atrophy

More general terms

• congenital anomaly (birth defect)
• syndrome