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What is MOPDII?

  • A form of dwarfism
  • Prevalence unknown, however considered very rare
  • Occurs as a result of mutation in the PCNT gene
  • Adult height ranges from 20 inches to 40 inches

Diagnosis of MOPDII

  • After birth by:
  • Historical records
  • X-rays
  • Observation of common physical characteristics 

What are common characteristics of MOPDII?

  • Short stature
  • Small head size
  • Abnormal hip development (hip dysplasia) 
  • Spine curvature (scoliosis)
  • Thinning of arm and leg bones
  • high pitched voice
  • Indentifiable facial features e.g. prominent nose, full cheeks, long mid-face and small jaw
  • Small teeth
  • Pigmentation of the skin

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

Other information about MOPDII

  • Intelligence is considered average
  • Individuals may have blood vessel abnormalities (Moyamoya disease)
  • Would need regular health checks but can lead a healthy lifestyle
  • Can affect boys and girls equally

Genetics of MOPDII

  • The exact inheritance pattern is unknown, however it is consider to be an autosomal recessive pattern

Dwarfism Genetics Microcephalic Osteodysplastic Primordial Dwarfism Type II MOPDII

Additional reading about MOPDII

*Little People UK are not responsible for external website*

Other organisations supporting MOPDII

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