“Pfeiffer Syndrome exhibits bulging, wide apart eyes with a high, large forehead.”
Pfeiffer Syndrome is a rare disorder that is inherited through the genes. There are many distinguishing characteristics about this Syndrome. A lot of times testing can be done inutero to determine if your child has this rare genetic disorder. It can be characterized through broad, deviated big toes and thumbs, craniosynostosis, and even syndactyly in the hands and feet. There are three types or levels of this disorder depending on the severity of the disorder in the child. Pfeiffer Syndrome affects around 1 out of every 100,000 people throughout the world. There is nothing that can be done to prevent the syndrome, and nothing that the mother did while pregnant made the syndrome occur. There is still no cure for Pfeiffer Syndrome.
Type I is also known as “classic” Pfeiffer Syndrome. It usually has mild manifestations with toe and finger abnormalities, brachycephaly, hypoplasia of the midface region and the people that have type I normally have normal intelligence and a good outcome to live a normal, happy life.
This type is associated with a cloverleaf shaped skull, extreme case of proptosis, abnormalities in the fingers and toes, neurological problems, developmental delay, and elbow synostosis or ankylosis. Having a cloverleaf shaped skull can cause the brain to refrain from growing. The bulging of the eyes due to shallow eye sockets can lead to visual problems as well. The life span is not promising for a child with type II Pfeiffer Syndrome.
There is a possibility of a clinical overlap between types II and III. This type has the same characteristics as type II, but there is no cloverleaf skull present. This makes it hard to determine type III from type I until the child is older. Types II and III have only happened in sporadic cases of the syndrome, and are less common than the first.
Clinical Description of Pfeiffer Syndrome
The first characteristics that can be sighted when dealing with Pfeiffer Syndrome are broad, short thumbs and big toes. There might also be webbing in the second and third fingers, and toes of the patient. There might even be mental retardation present as the patient grows, hydrocephaly, aqueductal stenosis, cerebellar and brain stem herniations, external auditory canal stenosis of the atresia, low set ears, internal anomalies such as pelvic kidneys, hypoplastic gallbladder and hydronephrosis, and recurrent ear infections. There might also be tracheal abnormalities, as well as a blockage in the midface hypoplasia, as well as an obstruction in the secondary nasal cavity.
The diagnosis is usually given by looking at the toes and thumbs of the patient. If the child also has the cloverleaf skull then this could be an indication as well. There might need to be molecular data collected in order to confirm whether it is Pfeiffer Syndrome or another disease. The children that exhibit these characteristics are recommended to be taken for clinical genetic investigations that include, but are not limited to: FGFR1 (exon 7), FGFR 2 (exon 8), FGFR 2 (exon 10) and FGFR 3 (exon 7).
The first treatment of the craniofacial abnormalities for the craniosynostosis is having surgical reconstruction on this area. This requires a series of procedures in the area. This can take time, and requires a lot of hospital stays. The synostotic sutures in the skull are let go within the first year of life. The goal for the outcome of the surgery is being able to decompress the pressure off the brain and to remodel the brain itself to allow it to grow easier within the skull. It might also be necessary to expand the bony orbits within the skull. There might also be further facial reconstruction needed in the future. These surgeries can get rid of the midfacial hypoplasia and the exophthalmos.
Other Names for Pfeiffer Syndrome
- Pfeiffer Syndrome
- ACS V
- Acrocephalosyndactyly Type V
- Noack Syndrome
- Craniofacial-Skeletal-Dermatologic Dysplasia