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What is Microcephalic Osteodysplastic Primordial Dwarfism Type I/III?

  • A form of dwarfism
  • Prevalence unknown, however considered very rare
  • Thought to occur as a result of mutation in the RNU4ATAC gene

Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III

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

What are common characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III?

  • Short stature
  • Small head size
  • Short limbs
  • Abnormal bone growth 
  • Identifiable facial features 
  • Sparse hair
  • Seizures

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

Other information about Microcephalic Osteodysplastic Primordial Dwarfism Type I/III

  • Intelligence may be affected
  • Life expectancy is limited
  • Can affect boys and girls equally

Genetics of Microcephalic Osteodysplastic Primordial Dwarfism Type I/III

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

Dwarfism Genetics Microcephalic Osteodysplastic Primordial Dwarfism Type IIII

Additional reading about Microcephalic Osteodysplastic Primordial Dwarfism Type I/III

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