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Achondrogenesis

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

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 8/7/2019

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