Dysmelia and Achondroplasia Overview

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Questions and Answers

Which of the following is NOT a condition associated with dysmelia?

  • Achondroplasia (correct)
  • Amelia
  • Syndactyly
  • Polydactyly

Individuals with achondroplasia have a normal intelligence.

True (A)

What is the typical maximal height range in individuals with achondroplasia?

120-125 cm

The fusion of fingers or toes from birth is known as __________.

<p>syndactyly</p> Signup and view all the answers

Match the condition with its description:

<p>Amelia = Absence of a whole extremity Polydactyly = Increase in the number of fingers or toes Oligodactyly = Decrease in the number of fingers or toes Syndactyly = Fusion of fingers or toes from birth</p> Signup and view all the answers

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Study Notes

Dysmelia

  • Congenital malformations of the extremities
  • Amelia: Absence of a whole limb
  • Polydactyly: An excess of fingers or toes
  • Oligodactyly: A deficiency of fingers or toes
  • Syndactyly: Fusion of fingers or toes at birth

Achondroplasia

  • A disorder affecting endochondral bone growth
  • Epiphyseal fusion occurs prematurely, impacting longitudinal bone growth
  • Clinical Findings:
    • Disproportionate short stature with the maximum height of 120-125 cm
    • Short, stocky extremities (micromelia) with O-shaped leg alignment
    • Characteristic facial features, including a depressed nasal bridge, a prominent forehead, and a larger skull
    • Joint malformations of the hip with increased lumbar lordosis (curve of the lower back)
    • Spinal stenosis
    • Normal intelligence

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