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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 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.

Updated: 8/22/2013

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.


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