Pfeiffer Syndrome is a rare genetic disorder that affects the shapes of the face and head of patients. This article discusses Pfeiffer Syndrome symptoms with pictures, it’s causes and treatment options.
Pfeiffer Syndrome is characterized by the premature fusion of certain bones of the skull, that results an abnormal shape of face and head. It not only effect the shape but also prevent the further growth of the skull. It can also affect the bones in the feet and hands. It affects approximately one in one hundred thousand births around the globe.
There are three types of Pfeiffer syndrome, classified according to severity of their symptoms. The three types include type 1, type 2 and type 3.
Type 1 of this syndrome is characterized by the premature fusion of the cranial sutures but it does not affect intelligence. With this type the survival rate is significant. A person with this type may have various finger and toe abnormalities along with recessed cheekbones. This type is also known as the classic Pfeiffer syndrome.
A person having type 2 will have abnormal skull shape which looks like a cloverleaf which happens because of the fusion of the cranial sutures which are extensive. Due to it, normal brain growth can be hampered, which in turn can cause mental retardation and neurological problems.
Type 3 shows same symptoms to type 2 but the person does not have the cloverleaf shape of the skull.
In order to diagnosis Pfeiffer syndrome, a team of orthopedists, ophthalmologists, and medical geneticists is there to make the diagnosis. A through physical examination is done in addition to variety of diagnostic tests such as regular x-rays, MRI (Magnetic Resonance Imaging) or a CT scan (computer tomography scan) to help detect the fusion of bone structures and coronal cranial structures that are untimely. A proper three-dimensional ultrasound may also done to help diagnosis Pfeiffer syndrome without the cloverleaf skull being present.
Pfeiffer Syndrome Causes, Symptoms, Treatment
Here you can find all relevant information about this syndrome like its causes, symptoms and possible treatments.
Causes of Pfeiffer Syndrome
The cause of Pfeiffer syndrome is always genetic and is associated with the Fribroblast growth factor receptors one and two. It happens when there is a mutation of either the FGFR1 of FGFR2 genes. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. These receptors are considered important for normal and healthy bone development. In Pfeiffer syndrome, these growth factors mutate and as a result, affect the bones in the head.
Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet. This mutation occurs pre birth within the mother’s uterus causing the head to be unable to grow in the normal way. For the time being, there are no known ways to prevent this genetic disorder from developing.
Symptoms of Pfeiffer Syndrome
Although the symptoms of Pfeiffer syndrome may vary from infant to infant but there are some symptoms which are seen in all with Type 1. These include:
- Tower-shaped abnormal looking skull
- Broad forehead
- Short wide thumbs
- Big Toes
- Partially developed toes and fingers
- Webbed hands and feet
- Problems with speech
- Face may deform because of underdevelopment
- Wide and down slanting eyes
- Small upper jaw bone
- An outward projecting chin
- Loss of hearing
- Having oral deformities like a high palate
- Having an abnormal formation of their teeth
- Having a fixed elbow joint which is seen occasionally
- Having a cleft palate
- Due to airway complications they can have respiratory distress
- Due to tracheal deformities they may have a hoarse voice
The treatment depends on how severe the symptoms are as well as the age of the onset of Pfeiffer syndrome. The treatment may include a variety of surgeries and medications to help correct the deformities and manage the symptoms. In order to treat complication arises due to this syndrome, usually a team of medical experts such as neurosurgeons, dentists, plastic surgeons, Ear, Nose, and Throat specialist, and more involved in the treatment of the infant.
The surgeries are done to remove and replace the deformed skull bone. This will help to relieve the pressure on the infant’s brain. In order to help manage their breathing and eating difficulties, a tracheotomy and gastrostomy surgery may done. A surgery to repair the webbed hands and feet when they are older, is also required. Facial deformities may need correction and cosmetic reconstruction surgery.