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What is Acromesomelic Dysplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Affects cartilage and bone development 
  • Mainly affects the forearms, lower legs and bones in the hands and feet
  • Thought to be 5 subdivisions 
    • Acromesomelic dysplasia, Maroteaux type
    • Acromesomelic dysplasia, Osebold-Remondini type
    • Acromesomelic dysplasia with genital anomalies
    • Fibular hypoplasia and complex brachydactyly (Du Pan syndrome)
    • Grebe dysplasia (including Hunter-Thompson type)
  • Average height of an adult is unknown, however it is thought to be below 120cm
  • Exact incidence is unknown
  • Mutation causing Acromesomelic Dysplasia  differs between the different types
    • Maroteaux type: chromosome 9 (locus 9p13-12)
    • Grebe dysplasia and Du Pan syndrome: chromosome 20 (locus 20q11.2). 
    • Acromesomelic dysplasia with genital anomalies: maps to 4q23-24.
    • Osebold-Remondini type has not been genetically mapped yet

Diagnosis of Acromesomelic Dysplasia

  • Before birth by: 
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis. 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are common characteristics of Acromesomelic Dysplasia?

  • Short stature
  • Short limbs, hands and feet
  • Broad hands and feet
  • Faicial features e.g. larger head, prominent forhead
  • Progressive artiritus 
  • Spinal curvature (lower thoracic kyphosis and/or lumbar hyperlordosis)

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

Other information about Acromesomelic Dysplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Affects boys and girls equally

Genetics of Acromesomelic Dysplasia

  • Most forms of Acromesomelic Dysplasia have an autosomal recessive inheritance pattern

Dwarfism Genetics Acro mutation recessive

  • Acromesomelic dysplasia, Osebold-Remondini type is thought to have a dominant inheritance pattern

Dwarfism Genetics Acro mutation dominant

Additional reading about Acromesomelic Dysplasia

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