Pfeiffer's syndrome is a condition of birth defects that causes the shape of the head, and the face to look abnormal. This condition can also affect the shape or fingers and toes of the baby. Pfeiffer's syndrome is a rare condition, only occurring in one in 100,000 babies.
Pfeiffer's syndrome occurs when skull bones fuse prematurely, that is, since the baby is still in the womb. As a result, the baby's brain does not have enough space to grow and develop. Under normal conditions, the baby's skull bones should be soft, to give the brain a chance to develop. After the brain and head are fully formed, the bones of the skull will merge, which is around the age of 2 years.
Causes of Pfeiffer's Syndrome
Pfeiffer's syndrome is caused by mutations in one of two genes that play a role in the formation of fetal bone in the womb. This condition can occur due to hereditary factors from parents or because of a new mutation of the gene. In addition, the age of fathers who are too old can increase the risk of gene mutations and Pfeiffer syndrome in children.
The signs of a baby with Pfeiffer's syndrome vary, depending on the severity and type of Pfeiffer's syndrome. But in general, the signs can be seen from his limbs, especially from the structure of the face and head. Usually doctors can already detect the possibility of this syndrome when the baby is still in the womb, through an ultrasound examination.
Types of Pfeiffer's Syndrome
In general, Pfeiffer syndrome is divided into three types, starting from the mildest first type, to the third most severe type. The following are complete signs of the three types of syndrome:
Type 1
As the mildest type, Pfeiffer type 1 syndrome only affects the physical condition of the baby, and does not interfere with brain function. Signs of type 1 Pfeiffer syndrome include:
- The location between the right and left eyes are far apart (ocular hypertelorism).
- The forehead that looks raised or protruding.
- The back of the head is flat (brachycephaly).
- The maxilla is not fully developed (hypoplastic maxilla).
- The lower jaw protrudes.
- Tooth or gum disorders.
- Larger toes or hands.
- Hearing impaired.
Type 2
Babies are diagnosed with type 2 Pfeiffer syndrome if they experience more severe and dangerous symptoms than symptoms of type 1 Pfeiffer syndrome. The more obvious signs of this type are:
- The face is shaped like a cloverleaf with a small, enlarged upper part of the jaw. This is because the bones of the head and face have fused faster than they should.
- The eyes protrude as if they were about to come out of the lid (exophthalmus).
- The brain stops growing or does not grow as it should.
- Difficulty breathing properly due to throat, mouth or nose problems.
- Hydrocephalus.
- Having ankylosis, which is a bone disorder that affects the elbow and knee joints.
Type 3
Type 3 Pfeiffer syndrome causes a very severe condition, in which abnormalities are not visible in the skull, but occur in organs. Possible signs are:
- Disorders of body organs, such as the lungs, heart and kidneys.
- Impaired cognitive abilities (thinking) and learning.
If the baby has Pfeiffer type 3 syndrome, the possibility of surgery must be done to overcome the symptoms that arise, as well as so that the baby can survive into adulthood.
Babies who have Pfeiffer's syndrome still have a great chance of recovery because this condition can be treated through surgery or physiotherapy. If your child is diagnosed with Pfeiffer's syndrome, you should immediately consult your pediatrician to get recommendations for appropriate treatment.
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