Advocate Health Care
a patient or visitor a physician or healthcare professional an employer
PrintEmail
Decrease (-) Restore Default Increase (+) font size

medical services home
i need
search by doctor name 
Doctor Name Contains (Smart Search)
OR
search by specialty

search by city/zip code
Find a doctor near your location by entering a city name OR ZIP code.
Near:


Within miles:
0 1 5 10 15 30 30+

search by insurance
Insurance Name Contains (Smart Search)
 (what's this)
 
to research a symptom, illness or condition

a-z health information - disease

 

Achondrogenesis

Definition

Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.

Causes

Achondrogenesis is inherited, which means it is passed down through families.

Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.

Symptoms

  • Very short trunk, arms, legs, and neck
  • Head appears large in relation to the trunk
  • Small lower jaw
  • Narrow chest

Exams and Tests

X-rays show bone problems associated with the condition.

Treatment

There is no current therapy. Talk to your doctor about care decisions.

Genetic counseling may be appropriate.

Outlook (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.

Possible Complications

This condition is often fatal early in life.

When to Contact a Medical Professional

This condition is often diagnosed on the first examination of an infant.

References

Horton WA, Hecht JT. Disorders involving ion transporters. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 688.


Review Date: 8/22/2013
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 

quick links patient information health care professional information employer information connect with Advocate

About Advocate | Contact Us | Jobs | SiteMap | Terms of Use | Notice of privacy practices ®Advocate Health Care, Downers Grove, Illinois, USA | 1.800.3.ADVOCATE | TDD 312.528.5030