short-rib thoracic dysplasia 18 with polydactyly

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.

Signs and symptoms

• Micromelia
• Thoracic hypoplasia
• Ulnar bowing
• Platyspondyly
• Radial bowing
• Epicanthus
• Brachydactyly
• Decreased calvarial ossification
• Hypoplastic ischia
• Hyperechogenic kidneys