• 1
  • 2
  • 3
  • 4
  • 1
  • 2
  • 3
  • 4

What is Spondyloepiphyseal Dysplasia, Congenita (SEDc)?

  • A form of dwarfism (skeletal dysplasia)
  • Adult height ranges from 3 feet to just over 4 feet
  • Caused by a mutation in the COL2A1 gene
  • Thought to occur in approximately 1 in every 100,000

Diagnosis of Spondyloepiphyseal Dysplasia, Congenita

  • Before birth by: 
    • Ultrasound scanning 
  • After birth by: 
    • Observation of common physical characteristics 
    • X-rays 

What are the common characteristics of Spondyloepiphyseal Dysplasia, Congenita?

  • Short stature from birth 
  • Very short trunk and neck 
  • Shortened limbs
  • Hands and feet are usually average-sized 
  • Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
  • Instability of the spinal bones (vertebrae) 
  • Flattened vertebrae (platyspondyly) (differing severity)
  • Abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara) (differing severity)
  • A broad, barrel-shaped chest 
  • Foot deformity (Clubfoot) (differing severity)
  • Arthritis and decreased joint mobility could develop early in life (differing severity)
  • Mild changes in their facial features (differing severity)
  • Cleft palate (differing severity)
  • Severe nearsightedness (high myopia) (differing severity)
  • Hearing loss (differing severity)

*Please be aware, not all of the characteristics may be present*

Other information about Spondyloepiphyseal Dysplasia, Congenita

  • Life expectancy is not affected 
  • Intelligence is not affected 
  • Can affect boys and girls equally

Genetics of Spondyloepiphyseal Dysplasia, Congenita

  • If there is no history of Spondyloepiphyseal Dysplasia congenita in the family, Spondyloepiphyseal Dysplasia congenita can be passed on by one parent (dominant) as the result of a mutation

Dwarfism Genetics SED mutation dominant

  • If one parent has Spondyloepiphyseal Dysplasia congenita, there is a 50% chance Spondyloepiphyseal Dysplasia congenita can be passed on to children

Dwarfism Genetics SEMD 1 parent affected dominant

Additional reading about Spondyloepiphyseal Dysplasia, Congenita

Join Little People UK

Become a member of Little People UK to keep up-to-date with what we are doing, receive invitations to events across the UK and get hold of new information literature that we produce.

Join Now