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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.

Growth hormone deficiency

Growth hormone deficiency means the pituitary gland does not make enough growth hormone.

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    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.

    Stillborn

    A stillbirth is when a baby dies in the womb during the last 20 weeks of pregnancy. A miscarriage is a fetal loss in the first half of pregnancy...

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      Breathing problems

      Breathing difficulty may involve:Difficult breathingUncomfortable breathingFeeling like you are not getting enough air

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        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.

        Open References

        References

        Backeljauw PF, Dattani MT, Cohen P, Rosenfeld RG. 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.

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                • Growth hormone deficiency - children
                 

                Review Date: 9/5/2017

                Reviewed 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.

                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. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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