Achondroplasia

1
Achondroplasia

• Kelly Boylan and Nicole Roberti

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Definition

• Achondroplasia is a disorder of bone growth.
  Although achondroplasia literally means "without
  cartilage formation," the problem is not in
  forming cartilage but in converting it to bone,
  particularly in the long bones of the arms and
  legs.

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Symptoms

• Abnormal hand appearance with persistent space
  between the long and ring fingers.
• Bowed legs
• Decrease muscle tone
• Disproportional large head to body size
  difference
• Prominent forehead

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Symptoms Continued

• Shortened arms and legs
• Short stature
• Spinal stenosis
• Spine curvatures called Kyphosis and Lordosis
• Average height of male is 4ft 4in
• Average height of female is 4ft 1in

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Signs and Tests

• During pregnancy, prenatal ultrasound may show
  excessive amniotic fluid surrounding unborn
  infant.
• Examination of the child after birth.

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Inheritance Pattern

• Autosomal dominant trait
• If one parent has it the infant has a 50 chance
  of inheritaning it.
• Both parents 75
• Most cases appear from spontaneous mutations

7
Lifetime Limitations

• Breathing slows or stops for short periods
• Obesity
• Recurrent ear infections
• Usually develop pronounced and permanent sway of
  lower back
• Bowed legs
• Difficulty walking

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Type of Mutation

• Mutations in the FGFR3
• This gene provides instruction for making a
  protein that is involved in the development and
  maintenance of bone and brain tissue.

9
Work Cited

• http//www.rightdiagnosis.com/a/achondroplasia/pre
  valence.htm
• http//wiki.medpedia.com/Achondroplasia
• http//www1.broward.edu/sfinazzo/student20Projec
  ts/Achondroplasia20930/Achondroplasia20930.htm