Recognize the Causes and Types of Pfeiffer Syndrome here

Pfeiffer syndrome is a condition of birth defects that cause the shape of the head, and the face looks abnormal. This condition can also affect the shape or fingers of the baby. Pfeiffer syndrome is a rare condition, only occurring in one in 100,000 babies.


Pfeiffer syndrome occurs when the skull bones merge before their time, 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 allow the brain to develop. After the brain and head are fully formed, the skull bones will unite, which is around the age of 2 years.

*/Causes of Pfeiffer's Syndrome

Pfeiffer syndrome is caused by mutations in one of two genes that play a role in fetal bone formation in the womb. This condition can occur due to hereditary factors from parents or because of a new mutation from the gene. In addition, the age of a father who is too old can increase the risk of gene mutations and Pfeiffer syndrome in his child.

Signs of babies who have Pfeiffer's syndrome vary depending on the severity and type of Pfeiffer syndrome that they suffer. But in general, these signs can be seen from the limbs, especially from the structure of the face and head. Usually, doctors can 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, ranging from the lightest first type to the third most severe type. The following are complete signs of the three types of the syndrome:

Type 1

As the mildest type, Pfeiffer type 1 syndrome affects only the baby's physical condition and does not interfere with brain function. Signs of type 1 Pfeiffer syndrome include:
  • The location between the right and left eyes is far apart ( ocular hypertelorism ).
  • The forehead that appears to rise or protrude.
  • The back of the head is flat ( brachycephaly ).
  • The maxilla is not fully developed ( hypoplastic maxilla ).
  • The lower jaw stands out.
  • Tooth or gum disorders.
  • Toes and hands are bigger or wider.
  • Hearing Impaired.
Type 2

Babies are diagnosed with type 2 Pfeiffer syndrome if they experience symptoms that are more severe and dangerous than the symptoms of type 1 Pfeiffer syndrome. More obvious signs of this type are:
  • The face is shaped like a cloverleaf with a small top and enlarged in the jaw. This is because the head and facial bones have fused faster than they should.
  • The eyes protrude as if they will come out of the petals (exophthalmos).
  • The brain stops growing or does not grow properly.
  • Difficulty breathing properly because of a throat, mouth, or nose disorder.
  • Hydrocephalus .
  • Experiencing ankylosis, a bone disorder that affects the elbow and knee joints.
Type 3

Type 3 Pfeiffer syndrome causes a very severe condition, where abnormalities do not appear on the skull bone but occur in the organs of the body. Signs that might occur are:
  • Disorders of organs, such as the lungs, heart, and kidneys.
  • Impaired cognitive abilities (thinking) and learning.
If the baby has type 3 Pfeiffer syndrome, the possibility of surgery must be done to overcome the symptoms that arise, so that the baby can survive into adulthood.

Babies who have Pfeiffer syndrome still have a great chance to recover because this condition can be treated through surgery or physiotherapy. If your child is diagnosed with Pfeiffer syndrome, you should immediately consult a pediatrician for recommendations for appropriate treatment.