Health Library

Achondrogenesis

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

I Would Like to Learn About:

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 but are not affected by this condition. 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.

Related Information

References

Grant LA, Griffin N. Congenital skeletal anomalies. In: Grant LA, Griffin N, eds. Grainger & Allison's Diagnostic Radiology Essentials. 2nd ed. Philadelphia, PA: Elsevier; 2019:chap 5.10.

Hecht JT, Horton WA, Rodriguez-Buritica D. Disorders involving ion transporters. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 717.

Review Date: 8/5/2023  

Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

A.D.A.M., Inc. is accredited by URAC, for Health Content Provider (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics. This site complies with the HONcode standard for trustworthy health information: verify here.

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. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- 2024 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.