Overview
Achondroplasia affects how cartilage turns into bone, especially in the long bones of the arms and legs. People with achondroplasia have normal intelligence and can lead full lives, but they need regular check-ups to prevent and manage complications.
Signs
- Short stature with short arms and legs
- Larger head with a prominent forehead
- Short fingers
- Bowed legs and an inward curve of the lower back
- Delayed motor milestones in babies
Causes and risk factors
It is caused by a change (mutation) in the FGFR3 gene. Most cases happen by chance in families with no history of the condition. A parent with achondroplasia has a 50% chance of passing it on.
Diagnosis
It can be suspected on pregnancy ultrasound and is confirmed after birth by examination, X-rays and, if needed, genetic testing.
Treatment
There is no cure, but care focuses on monitoring growth, the spine, breathing during sleep and ear infections. Some children need surgery for spinal narrowing or bowed legs. Newer medicines may help growth in selected children.
When to see a doctor
Children with achondroplasia need regular follow-up. Seek prompt care for breathing pauses during sleep, weakness or numbness in the legs, or loss of bladder control.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
