Achondroplasia is a bone growth disorder and the most common cause of dwarfism. Although the name literally means “without cartilage formation”, the real problem lies in the transformation of cartilage into bone during initial development. The most important effect of this is that the normally long bones of the arms and legs do not reach their natural length, but there are also problems with the growth of the bones of the skull and face. Achondroplasia does not appear to affect intelligence, although the brain is often larger as a result of the condition.
Symptoms of achondroplasia
Achondroplasia can be diagnosed at birth based on the appearance of the child:
- Relatively long torso, with disproportionately short arms and legs – the bones of the arms and legs closest to the torso are the most affected;
- Large head with pronounced forehead;
- Little protruding cheekbones / underdevelopment ( hypoplasia ) of the central part of the face;
- Short fingers;
- Sometimes unusual joint flexibility – some joints may extend beyond their normal stopping point, while others may be limited;
- Some children have an abnormal curve or swelling in the lower spine.
With growth, other effects of achondroplasia can be noted:
- Due to the larger (proportionately) head, the child may reach certain stages of motor development later than children without this condition;
- Hypotonia – drop in muscle tone;
When the individual is fully grown, the most obvious symptom is dwarfism – most patients are about five feet tall when they reach adulthood.
Diagnosis for achondroplasia
Normally it is possible to diagnose achondroplasia at birth, sometimes even earlier using ultrasound scanners. It is also possible to take an X-ray to check the length of the bones of the limbs.
What are the causes of achondroplasia?
Achondroplasia is a genetic condition. It is an autosomal dominant trait, so only one copy of the gene is needed from one of the parents for the condition to manifest in the child. However, the majority of cases of achondroplasia are not hereditary, but come from a spontaneous mutation in the sperm or egg of one of the two parents, without either of them having the disease.
Treatments for achondroplasia
Achondroplasia is incurable. However, some of the negative effects of the condition may need to be treated:
- Children with a curve in the lower part of the spine may need an orthopedic torso for about their first year of life.
- An effect of achondroplasia can be having arched legs; this problem can be solved surgically.
- The large opening under the skull may narrow, and surgery may need to be enlarged to avoid compression of nerves, blood vessels and spinal cord, which can lead to loss of breathing control (central apnea) and possible sudden death.
- Middle ear infections are common and can cause some degree of hearing loss, and should therefore be treated promptly with antibiotics.
- L ‘ obesity can worsen to back problems and joints, therefore patients with achondroplasia should control their weight and they should follow the directions of their physicians to prevent obesity.
Patients with achondroplasia can lead normal and full lives, but due to the high number of complications ascribed to their condition it is important that they receive adequate care from their parents and doctors who know the condition itself. Children with achondroplasia will need frequent checks and measurements to monitor their growth.
Which specialist to contact?
Specialists in pediatrics will take care of guiding parental care during childhood, while different specialists (from orthopedic surgeons to neurosurgeons) will be able to deal with the various complications.