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What is Metaphyseal Chordrodysplasia Schmid Type?

  • A form of dwarfism (skeletal dysplasia)
  • Prevalence unknown
  • Caused by mutation in the COL10A1 gene

Diagnosis of Metaphyseal Chordrodysplasia Schmid Type

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

What are common characteristics of Metaphyseal Chordrodysplasia Schmid Type?

  • Short limbed dwarfism 
  • Bowed legs (genu varum)
  • Flaring of bones of the lowe rib cage
  • lumbar lordosis
  • hip deformities (coxa vara)
  • Waddling gait
  • Arthritis later in life

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

Other information about Metaphyseal Chordrodysplasia Schmid Type

  • Intelligence is not affected
  • Life expectancy is not affected
  • Affects males and females equally

Genetics of Metaphyseal Chordrodysplasia Schmid Type

  • Autosomal dominant pattern

Dwarfism Genetics Metaphyseal Chordrodysplasia Schmid Type dominant

Additional reading about Metaphyseal Chordrodysplasia Schmid Type 

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