Britannica
Sources used in this answer
Which physical features are common in achondroplasia?
Created from Britannica articles
using AI.
AI can make mistakes, so verify using Britannica articles.
human genetic disease
Photomicrograph of the BRCA2 tumor suppressor gene on chromosome 13 of the human genome. Inactivation of this growth-regulating gene is associated with a higher risk of developing breast cancer.
Achondroplasia is a genetic disorder characterized by an abnormality in the conversion of cartilage into bone, which prevents the proper growth of long bones. It is the most common cause of dwarfism.1
Common physical features associated with achondroplasia include:
- Limbs and Trunk: Very short limbs (with fingers reaching only to the hips) contrasted with a trunk of nearly normal size.1
- Head and Face: An enlarged head due to the overgrowth of vault bones, a bulging forehead, a saddle nose, and a protruding jaw.1
- Torso and Skeletal Structure: A narrow chest and a deeply incurved lower back with prominent buttocks.1
- Pelvis: Women with the disorder may have a narrow pelvis, which can lead to difficulties during childbirth.1
Individuals with achondroplasia are of normal intelligence and generally maintain normal health.1