Achondroplasia Symptoms

Achondroplasia is a congenital disorder which comes under the group of disorders known as chondrodystrophies or osteochondrodystrophies. This is basically a bone and cartilage growth disorder. It is inherited as an autosomal dominant trait, that is, if the child gets the defective gene from even a single parent, then he will suffer from this condition. The probability of suffering from this condition increases to 50% if one parent suffers from it and to 75% if both parents suffer from it. However, many cases also occur due to spontaneous mutations, as it is basically a genetic disorder.

Symptoms of Achondroplasia

• One of the most commonly seen symptom is shortness in stature with the average height of an adult male being around 4 feet 4 inches and the average height of an adult female around 4 feet 1 inch. This dwarfism is often accompanied by shortened and thick arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs.
• The skull is normally seen to be slightly larger than normal. This enlargement of the head may occur due to collection of fluid around the brain, which is known as hydrocephalus.
• The person may reach his milestones later in life, like the person may start walking between 18 to 24 months of age, instead of 12 months.
• Another achondroplasia symptom includes the appearance of a prominent forehead and a flattened nasal bridge. This may lead to breathing problems and apnea.
• There are many dental problems that the person has to face, like crowding and misalignment of teeth. This leads to increased chances of tooth decay due to the difficulty in maintaining oral hygiene.
• The person has lordosis, which is a condition where the lower spine is curved inwards (forwards), causing what is also known as 'sway back'. This may lead to kyphosis or during childhood, there may be the development of a small hump near the shoulders that normally goes away once the person starts walking.
• A person suffering from achondroplasia often has small vertebral canals. This occurs due to insufficient growth of the vertebrae, due to which there isn't enough space for the exit of nerves. If only a single nerve is compressed, then the child may experience pain, body numbness, or weakness in a limb. However, if the entire spinal cord is compressed, there may be weakness and numbness felt below the spine, which may even lead to loss of bowel and bladder control. In fact, there have been cases reported wherein some children have suddenly died in their sleep in infancy or early childhood due to compression of the upper spinal cord, leading to interference with the breathing center.
• Due to the short stature, people suffering from achondroplasia often also suffer from obesity.
• The appearance of bowed legs is yet another symptom that confirms the occurrence of achondroplasia.
• There is often an extra space present between the middle finger and the ring finger, leading to what is known as the 'trident hand'.
• Poor muscle tone along with loose joints is often seen
• The person may get recurrent bouts of middle ear infections, which may lead to eventual hearing loss.
• Despite the dwarfism, the person has normal intelligence and normal development of sexual organs. He also has a normal sized trunk.

These were the various symptoms of achondroplasia that help to diagnose this condition. Although the symptoms often suffice when it comes to diagnosing this condition, it is best to check the radiologic findings to confirm the diagnosis, before starting treatment.