BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAchondrogenesisAchondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.Growth hormone deficiencyGrowth hormone deficiency means the pituitary gland does not make enough growth hormone.Read Article Now Book Mark Article 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.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...Read Article Now Book Mark Article Breathing problemsBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airRead Article Now Book Mark Article 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 ReferencesReferencesGrant 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.AllVideoImagesTogRelated Information Growth hormone deficiency - children(Condition) 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. 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- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
AchondrogenesisAchondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.Growth hormone deficiencyGrowth hormone deficiency means the pituitary gland does not make enough growth hormone.Read Article Now Book Mark Article 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.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...Read Article Now Book Mark Article Breathing problemsBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airRead Article Now Book Mark Article 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 ReferencesReferencesGrant 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.