Pfeiffer Syndrome is a very rare genetic disorder that causes premature fusion of some of the bones in the skull. There are some common visible symptoms associated with this condition, such as protruding eyes, and patients can also have hearing loss. This condition is caused by mutations to the FGFR genes, which are also associated with syndromes like Jackson-Weiss syndrome or Crouzon syndrome.
There are three types of this condition, Type 1, Type 2, and Type 3. These different versions of this condition have different presentations. Type 1 is associated with mild symptoms, and patients usually have a normal lifespan and normal intelligence. Type 2 is associated with a clover-leaf-shaped head with an extensive fusion of the bones in the skill. These patients often have a shortened lifespan and developmental delays. Type 3 is similar to Type 2, but the cloverleaf shape of the head is more pronounced.
The common symptoms of this condition are:
This condition is caused by a gene mutation in the FGFR1 or FGFR2 genes. The cause of these mutations is not well understood. The genes that are involved in this condition are also mutated in conditions like Crouzon syndrome and Apert syndrome.
The risk factor for this condition is having parents who carry the gene mutations that lead to Pfeiffer syndrome.
Diagnosis of this condition is usually made at birth based on the appearance of the child’s skull and face. This condition can sometimes require that a specialist verify the diagnosis. A geneticist might also be involved if genetic testing is done to help confirm this diagnosis.
X-ray and CT scans can also be used to help determine the degree of malformation in the bones of the face and the skull. The condition of the ears and ear canals can also be looked at with these kinds of imaging.
This condition is complex, and it can involve various parts of the skull and face. This means that feeding, speech, and development can all be delayed or inhibited due to this condition. Children might need to work with various kinds of specialists to support the care of this condition. Some children will need surgeries to alleviate pressure on the brain as well as other abnormalities in the structures of the face.
Some children need airway treatments as well as support from devices like CPAP machines to assist with breathing. Dental care is often also necessitated due to the severe dental abnormalities that can be linked to this condition.
Prevention of this condition is not usually possible. Parents who are considering having children who have other family members with this condition should consider having genetic testing done to see if they carry the genes that can cause Pfeiffer syndrome. This can help them decide if they want to have biological children or not.