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Symptoms

Causes

Treatment

Symptoms of Achondroplasia

Typical appearance of achondroplasia symptoms are apparent at birth:

  • short stature
  • short limbs, proximal extremity (upper arm and thigh)
  • large appearing head
  • skeletal (limb) abnormalities
  • Abnormal hand appearance (trident hand) with persistent space between the long and ring fingers
 
  • marked kyphosis and lordosis (spine curvatures)
  • waddling gait
  • prominent (conspicuous) forehead (frontal bossing)
  • increased inward curve of lower back making the buttocks appear more prominent (lordosis)
  • increased outward curve of upper back making back appear slightly hunched (kyphosis)
  • head appears disproportionately large for body
  • hypotonia
  • polyhydramnios (present when affected infant is born)
  • bowed legs

All people with achondroplasia are much shorter than the average person. . The average height of an adult male with 52 inches, or 4 feet 4 inches, and the average height of an adult female with achondroplasia is 49 inches, or 4 feet 1 inch.

Notes: A family history of achondroplasia should alert parents to the possibility of having an affected child. Typical appearance of achondroplastic dwarfism is apparent at birth.

 

 

 
 

 

 
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