Main AHCA Website

AHCA’s main website for information on Medicaid, Health Quality Assurance and the Florida Center for Health Information and Policy Analysis.

Go >

Florida Health Information Network

This website provides information and resources relating to AHCA’s initiatives for Health Information Technology and Health Information Exchange.

Go >


FloridaHealthFinder.gov

Provides health education and information to compare and locate health care providers in Florida to make well-informed health care decisions.

Go >
AHCA Network of Websites

Health Education


Health Encyclopedia

Search the Health Encyclopedia

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. The chance for a subsequent child to be affected is 25%.

Symptoms

Symptoms may include:

  • 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 health care provider about care decisions.

You may want to seek genetic counseling.

Outlook (Prognosis)

The outcome is most often 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 exam of an infant.

References

Backeljauw PF, Dattani MT, Cohen P, et al. Disorders of growth hormone/insulin-like growth factor secretion and action. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 10.

Horton WA, Hecht JT. Disorders involving ion transporters. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 697.

Review Date:7/10/2015
Reviewed By:Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, 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

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.

Health
Outcome Data

No data available for this condition/procedure.

Health Encyclopedia

More Features

We Appreciate Your Feedback
1. Did you find this information useful?
         Yes
         No

2. Would you recommend this website to family and friends?
         Yes
         No