What is achondroplasia

Achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons with achondroplasia are little people. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4) in males and 124 cm (49 inches, or 4 foot 1) in females.Achondroplasia is the most common cause of short stature with disproportionately short limbs.Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones.

A birth deformity characterised by imperfect bone formation. It results in dwarfs with normal-sized heads but short arms and legs.

 

Approximately 20 to 50 percent of all children with achondroplasia will experience a neurological impairment. This is caused by compression created as they literally grow faster than their bones. The stunted bone growth at the base of the skull and the spine can cause the spinal cord and brain stem to become compressed. This can lead to key nervous system structures -- like the brain stem, spinal cord, spinal nerve roots and cerebrospinal fluid (CSF) spaces -- to also compress. Eventually, this may lead to neurological deficits like:

• Spinal Cord Myelopathy
• Cervico-medullary Myelopathy
• Hydrocephalus