spondyloepimetaphyseal dysplasia MATN3-related

Pathology

• bone disease
• severe epiphyseal & metaphyseal dysplasia

Genetics

• associated with defects in MATN3

Clinical manifestations

• disproportionate early-onset dwarfism
• bowing of the lower limbs
• lumbar lordosis
• normal hands
• skeletal abnormalities include
  • short, wide & stocky long bones with
  • severe epiphyseal & metaphyseal changes
  • hypoplastic iliac bones
  • flat, ovoid vertebral bodies

More general terms

• spondyloepimetaphyseal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/608728