Achondrogenesis

Dec 28, 2004 Viewed: 1469

Definition 
Achondrogenesis is a defect in the development of bone and cartilage. It is thought to be inherited.

Causes, incidence, and risk factors 
Achondrogenesis is a rare type of dwarfism. It is usually fatal at birth or soon after.

Symptoms  

     
  • very short trunk, arms, legs and neck  
  • head appears large in relation to the trunk  
  • small lower jaw  
  • narrow chest

Signs and tests 
X-Rays show characteristic bone abnormalities.

Treatment  
No treatment is available. Genetic counseling may be appropriate.

Expectations (prognosis) 
The outcome is generally very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.

Complications 
This condition is often fatal early in life.

Calling your health care provider 
This condition is often diagnosed on the first examination of an infant.

Johns Hopkins patient information

Last revised: December 6, 2012
by Simon D. Mitin, M.D.

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