Pfeiffer syndrome is a rare disease that occurs when the bones that form the head unite earlier than expected, in the first weeks of pregnancy, which leads to the development of deformities in the head and face. In addition, another characteristic of this syndrome is the union between the baby's little fingers and toes.
Its causes are genetic and there is nothing that the mother or father did during pregnancy that could cause this syndrome but there are studies that suggest that when the parents became pregnant after the age of 40, the chances of this disease are greater.
Changes in the fingers characteristic of Pfeiffer Syndrome
Types of Pfeiffer Syndrome
This disease can be classified according to its severity, and can be:
- Type 1: It is the mildest form of the disease and occurs when there is union of the skull bones, the cheeks are sunken and there are changes in the fingers or toes but generally the baby develops normally and its intelligence is maintained, although they may deafness and hydrocephalus.
- Type 2: The head is in the shape of a clover, with complications in the central nervous system, in addition to deformity in the eyes, fingers and in the formation of organs. In this case, the baby has a fusion between the bones of the arms and legs and therefore is unable to have well-defined elbows and knees and there is usually mental retardation involved.
- Type 3: It has the same characteristics as type 2, however, the head is not in the shape of a clover.
Only babies born with type 1 are more likely to survive, although several surgeries are needed throughout their lives, while types 2 and 3 are more severe and generally do not survive after birth.
How the Diagnosis is Made
The diagnosis is usually made soon after birth by observing all the characteristics that the baby has. However, during ultrasounds, the obstetrician may indicate that the baby has a syndrome so that the parents can prepare. It is rare that the obstetrician indicates that it is Pfeiffer's Syndrome because there are other syndromes that may have similar characteristics such as Apert's Syndrome or Crouzon Syndrome, for example.
The main characteristics of Pfeiffer's syndrome are the fusion between the bones that form the skull and the changes in the fingers and toes that can manifest through:
- Oval or asymmetric head shape, in the form of a 3-leaf clover;
- Small flat nose;
- Airway obstruction;
- The eyes can be very prominent and wide apart;
- Thumbs very thick and turned inwards;
- Big toes far removed from the rest;
- Toes joined together through a thin membrane;
- There may be blindness due to the enlarged eyes, their position and increased eye pressure;
- There may be deafness due to malformation of the ear canal;
- There may be mental retardation;
- There may be hydrocephalus.
Parents who have had a baby like this can have other children with the same syndrome and for that reason it is advisable to go to a genetic counseling consultation to get better information and to know what are the chances of having a healthy baby.
How is the treatment
Treatment for Pfeiffer's syndrome should begin after birth with some surgeries that can help the baby develop better and prevent loss of vision or hearing, if there is still time to do so. Generally the baby who has this syndrome undergoes several surgeries on the skull, face and jaw in order to decompress the brain, remodel the skull, better accommodate the eyes, separate the fingers and improve chewing.
In the first year of life, it is advisable to perform surgery to open the skull sutures, so that the brain continues to grow normally, without being compressed by the bones of the head. If the baby has very prominent eyes, some surgeries can be performed to correct the size of the orbits in order to preserve vision.
Before the child completes 2 years of age, the doctor may suggest that the dentition be evaluated for possible surgery or the use of teeth alignment devices, which are essential for feeding.
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