What are congenital contractures?
Congenital contractures are rare joint abnormalities in the unborn child. The joints are in an abnormal position, allowing the child it can be very difficult to move. Congenital contractures can sit in nearly all joints, including the ankles, knees, elbows, wrists, finger joints and the spine (scoliosis). The problems arise in the second or third month of pregnancy.
Congenital contractures is not an isolated disease. Rather it is a result of other problems during pregnancy:
- Babies with contractures often have more birth defects. The most common cause of congenital contractures is voorhoornceldegeneratie.
- Contractures may also occur because the baby has literally not enough room to move in the womb. For example, if there is not enough amniotic fluid.
Medical names for congenital contractures are: arthogryposis multiplex congenita (AMC), amyoplasie and congenital contractures. The disease is rare and occurs in 1 in 3000 newborns. In boys as much as girls.
What causes congenital contractures?
Congenital contractures usually occur around the second or third month of pregnancy. The baby does not move sufficiently in the abdomen. As a result, a lot of additional forms of connective tissue around the joints, which are thereby less mobile. Eventually the joints will stiffen and increasingly on the go time warp.
Why the child moves too little in the womb? This may be the result of a whole range of diseases:
- Diseases of the nervous system. This is in 90% of cases, the cause of congenital contracture. Examples of such diseases are voorhoornceldegeneratie, spina bifida and cerebral palsy.
- Muscle diseases, such as some congenital muscular dystrophies or congenital myopathies, or abnormalities of the connective tissue around the muscle. These diseases are in about 10% of the cases, the cause of congenital contracture.
- Sometimes the blood flow to the uterus is not good, causing nerve, muscle or bone damage in the baby.
- Too little room for maneuver in the womb. For example if there is too little amniotic fluid or in an abnormal shape of the uterus.
- Disease in the mother that give an increased risk of congenital contractures. For example, certain metabolic disorders, diabetes and multiple sclerosis.
- Congenital contractures can also be hereditary. There appear to be both dominant and recessive inherited forms of the disease. By dominant inheritance the child has a 50% chance to get the disease. With recessive inheritance is 25%.
How do you know if your baby has congenital contractures?
Usually represents a pediatric neurologist determine that a child has congenital contractures. But also can assist other physicians in the diagnosis, such as a genetic counselor.
First, the doctor does a thorough physical examination. She looks which joints differ and how they differ. In addition, trying to figure out the doctor making the contractures have arisen. If the child has an illness?
Whether the cause is the mother? The study of the mother is done by a gynecologist.
The study your child further comprises:
- An MRI and / or CT scan of joints and muscles;
- Blood tests;
- X-rays;
- Examination of a small piece of muscle tissue of the child under the microscope (muscle biopsy).
Using prenatal diagnosis the doctor can sometimes determine if an unborn child has congenital contractures. For example, in people who already have a child with this disease. How serious the illness will be is impossible to predict.
Treatment of congenital contractures
Congenital contractures are unavoidable, but there is something to do with the joint abnormalities.
Often, different operations are necessary to put joints in a better position:
- The joints of the feet and legs are discussed first. 90% of children with this disease has a so-called "club foot," a severe deformation of the foot. Shortly after birth, the child gets cast on the foot. If this does not help following surgery if your child is three to six months old.
- After the legs follow the joints in the upper half of the body. By that time, the child is generally a little older, so that it can actively work on treatment.
- The spine follows last. In a crooked or curved spine (scoliosis), for example a spinal fusion may be required. This is an operation in which the spine is being put.
Further, your child is under the care of a rehabilitation doctor. Together with the orthopedic surgeon it makes a treatment plan. Your child gets exercise to make the joints more flexible. The child is doing passive exercises which the therapist moves the joints of your child. It also helps rehabilitation physician in choosing tools as a walking brace. It teaches your child how to save themselves as well as possible.
Often there are also other experts in the treatment team. For example, physiotherapists or occupational therapists, psychologists and social workers.