Achondroplasia Symptoms And Treatment

What is achondroplasia?

Achondroplasia is a growth disorder. The word achondroplasia literally means "no cartilage formation".

In a person with achondroplasia grow the bones in the arms and legs barely. They remain short. The whole body therefore remains short. The body often grows normally. People stay with achondroplasia usually shorter than 1:45 meters.

Achondroplasia causes other problems such as otitis media, dental problems, a swayback, bandy legs and pinching of the spinal cord.

Achondroplasia is not curable. However, an orthopedist may cause the back and legs develop better. In a hollow spine (scoliosis), a corset or surgery may be necessary.

Achondroplasia symptoms

Children with achondroplasia are born already remarkably small. They do have a normal weight. Other symptoms include:

1. The head is larger than normal.
2. The face is relatively small.
3. The top of the nose is flat, the forehead is convex and the lower jaw protrudes forward.
4. The arms and legs are short and fat.
5. The upper arms and legs are shorter than the forearms and legs. Normally that would be the other way around.

A small number of children have hydrocephalus (hydrocephaly): about seven hundred children.

What are the consequences of achondroplasia?

Achondroplasia often causes some annoying problems:

1. Children with achondoplasie often have a middle ear infection. This usually stops when the child is about six years. But sometimes it keeps coming back to puberty.
2. Many children have dental problems. The lower jaw is more forward than the upper jaw. Thereby closing the teeth are not well-coordinated. This causes pain in the jaws and difficulty with biting and chewing. Often there is not enough room for the teeth. The jaws are in fact small, while the teeth have normal size.
3. Many people with achondroplasia have bandy legs. The bones in the hips, knees and ankles often grow crooked. Many people with bandy legs suffer from pain in the knees.
4. Women with achondroplasia may simply be pregnant, but the baby can not be born in the usual way. The basin is in fact so narrow that a child does not fit through the pelvic opening. The child will be born by cesarean section.
5. By achondroplasia may cause a kink in the back. Then there get trapped nerves. Fortunately, this can usually be prevented. If it is not treated, someone gets namely all kinds of symptoms such as tingling in legs and feet, back pain, sometimes radiating to the legs, tired legs, weakness, numbness of the skin of buttocks, legs or feet, incontinence and not more may become sexually aroused.

Children with achondroplasia go like other children to a kindergarten and school nearby. They do need some changes, such as a special table and a footstool.

Achondroplasia inherited?

Achondroplasia is dominantly inherited. But nine out of ten children with achondroplasia are born to parents with normal stature. That's because achondroplasia usually arises spontaneously. This spontaneous achondroplasia or again hereditary.

1. If one of the parents has achondroplasia, is the probability of having a child with achondroplasia 50%.
2. If both parents have achondroplasia, the probability of having a child with achondroplasia 50%. The chance of a child without achondroplasia is 25%. The probability that the child inherits the achondroplasia gene from both parents is 25%: these children are stillborn or die shortly after birth.

Genetic counseling can be enjoyed at a university hospital.

Achondroplasia treatment

The stunted by achondroplasia is nothing to do. Also, growth hormones do not help. For most other consequences of achondroplasia do exist treatments. It is best if the treatment is done in a team. The team includes an orthopedist, a physiatrist, a physiotherapist, a pediatrician and an ENT specialist.

1. A child with achondroplasia comes soon after birth to an orthopedist. It will keep the development of the back and legs into the holes. She teaches parents how to support their child as it learns to sit. If it is necessary the child gets a corset that keeps the back straight.
2. A child of four or five years a sharp kink in his back, then it may need surgery. Also, an operation later is still possible to make the back straight. In adults, this operation but much heavier than in children.
3. When middle ear infection your doctor refers you to an ear, nose and throat. Sometimes help tympanostomy tubes.
4. Children with achondroplasia need a good dentist who has experience with achondroplasia.
5. Bandy legs do a lot of pain then surgery possible. This is a major surgery.
6. His arms and legs so short that tools do not help enough? Then, an operation is possible. The orthopedic surgeon makes the legs and arms than longer. This is a very difficult operation. The bones are broken and stretched with pins and screws. It then grows new bone tissue, so that the arm or leg is longer. This treatment begins at puberty. It takes years and is very painful. Such an operation rarely happens in people with achondroplasia.