Achondroplasia is an inherited disorder of bone growth. Although achondroplasia literally means "without cartilage formation," in this disorder the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs.
All persons with achondroplasia are short. The average height of an adult male with achondroplasia is 131 cm (52 inches, or 4 foot 4), and the average height for adult females is 124 cm (49 inches, or 4 foot 1). A person with achondroplasia has an average-size trunk, short arms and legs with disproportionately short upper arms and thighs, a slightly enlarged head, and a prominent forehead. The person's fingers are short, and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.
Health problems associated with achondroplasia can include breathing problems (apnea), obesity, and ear infections. The head is usually large (macrocephaly) and may have enlarged fluid spaces within the brain (ventriculomegaly). Only rarely is this associated with increased pressure in the brain (hydrocephalus). Adults with achondroplasia usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Older individuals often have back pain, which can cause difficulty with walking
Content Courtesy : ghr.nlm.nih.gov
^{The information provided herein is intended for your general knowledge only and is not a substitute for medical advice or treatment for specific medical conditions. The information should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.}