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Spondyloepimetaphyseal Dysplasia (SEMD)

What is Spondyloepimetaphyseal Dysplasia (SEMD), Strudwick Type?

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone growth
  • Linked to Chromosome 12q13
  • Can be caused by a mutation in the COL2A1 gene
  • Can be inherited from parents who also have SEMD
  • Occurrence is very rare and it is thought it could be less than 1 in every 1,000,000
  • Due to the rarity of SEMD the final average height of an adult can not be certain

Diagnosis of Spondyloepimetaphyseal Dysplasia, Strudwick Type

  • Before birth by: 
    • Prenatal ultrasound scanning 
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays (which can distinguish between the more common form of dwarfism SEDc)

What are the common characteristics of Spondyloepimetaphyseal Dysplasia, Strudwick Type? 

*many common characteristics are similar to the that of the more common form of dwarfism SEDc* 

  • Short stature
  • Short trunk
  • Shortened limbs
  • Usually have average sized hands and feet
  • Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
  • Flattened vertebrae (platyspondyly) (differing severity)
  • Abnormaility of the hip joint that causes the upper leg bones to turn inward (coxa vara) (differing severity) 
  • Protusion of chest bone
  • Foot deformity (club foot)
  • Mild facial feature differences
  • Cleft palate (differing severity)
  • Severe nearsightedness (high myopia) 

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

Other information about Spondyloepimetaphyseal Dysplasia, Strudwick Type

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

Genetics of Spondyloepimetaphyseal Dysplasia, Strudwick Type

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

Dwarfism Genetics SEMD mutation dominant

 

Additional reading about Spondyloepimetaphyseal Dysplasia, Strudwick Type

*Little People UK are not responsible for external website*

 

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