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.
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 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.
There is no current therapy. Talk to your health care provider about care decisions.
You may want to seek genetic counseling.
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...
Breathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough air
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.
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: 8/10/2021
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.