• 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.