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Pfeiffer Syndrome

Pfeiffer Syndrome

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Overview

Pfeiffer syndrome is a genetic condition where the bones (sutures) in the skull close before the brain is fully grown (craniosynostosis). This causes deformities. Characteristics that lead to a Pfeiffer syndrome diagnosis include an underdeveloped or sunken face, bulging or wide eyes and an abnormally shaped head. Another characteristic is when the thumbs and the first (big) toe bends away from other fingers and toes.

What are the types of Pfeiffer syndrome?

There are three different types of Pfeiffer syndrome based on the severity of the condition, including:

Type 1: Type 1 or classic Pfeiffer syndrome has mild symptoms, including facial deformities and well-defined thumbs and big toes. Children diagnosed with classic Pfeiffer syndrome usually have an average life expectancy and typical intelligence with treatment.

Type 2: Type 2 Pfeiffer syndrome is more severe than type 1, often with more complex bone growth abnormalities in the hands and feet. Symptoms include decreased mobility of the elbow and/or knee joints, neurological problems and intellectual disabilities. The skull forms with a “tri-lobed” or “cloverleaf” shape that causes bulging at the sides and front. If this type doesn’t receive treatment, it could be life-threatening.

Type 3: Type 3 Pfeiffer syndrome is similar to type 2, except the skull doesn’t bulge at the sides and the front. Instead, the base of the skull is short, teeth are present at birth (natal teeth), eyes protrude from their sockets (ocular proptosis) and there are internal organ abnormalities (visceral anomalies). The outlook for type 3 Pfeiffer syndrome is poor and often life-threatening if not treated.

Symptoms

Pfeiffer syndrome occurs when joints (sutures) between bones in your baby’s skull close too soon during fetal development. After your baby’s skull closes, their brain is still growing. Pressure inside of the skull causes several physical characteristics that affect your baby’s appearance, including:

A head that appears larger than normal, often with a high forehead.

Bulging eyes or wide-set eyes.

A beak-shaped nose.

Crowded and crooked teeth due to a smaller jaw.

In addition, other physical characteristics include:

Broad thumbs and a big toe that is out of line with other fingers and toes.

Connected or webbed fingers and toes.

Causes

Pfeiffer syndrome occurs because of a genetic change (mutation) that makes a gene not work as it should. Most often, this change is in the FGFR2 (fibroblast growth factor receptor) gene, but can also be in the FGFR1 gene. In one case, healthcare providers found it in the FGFR3 gene.

The gene change causes miscommunication between fibroblast growth factors and receptors, which leads to joints (sutures) between bones closing before your baby’s brain grows to normal size during fetal development. The brain growth against the closed skull bones puts pressure on the bones, causing them to change shape and result in abnormal formations throughout the body.

This genetic mutation can pass down from one parent (autosomal dominant) to the child or it can be a new change in your baby’s DNA that occurs randomly. These random new (de novo) changes happen slightly more with fathers who are over 40 to 45 years old when the baby is born.

Diagnosis

Diagnosis of Pfeiffer syndrome can start before your baby is born during a prenatal ultrasound or MRI (magnetic resonance imaging) to identify skeletal abnormalities of your baby’s body during fetal development. Confirmation of the diagnosis occurs after your baby is born, when your healthcare provider will provide a physical examination of your baby along with a CT scan (computed tomography scan) or an MRI to look for misshapen bones, or bones that formed incorrectly. Genetic testing to find the gene change in the FGFR1 and/or FGFR2 genes also confirms a Pfeiffer syndrome diagnosis.

Treatment

Treatment for Pfeiffer syndrome addresses symptoms associated with the condition. Your child’s healthcare provider might recommend a series of surgeries to address bone growth abnormalities.

The most immediate treatment will be surgery to alleviate any pressure against the skull (craniosynostosis) or a buildup of fluid in the skull (hydrocephalus) due to your baby’s growing brain. A tube (shunt) inserted into the skull will drain fluid away from the brain. This surgery normally happens before your child turns 4 months old.

During their first year, your healthcare provider might recommend surgery to open your child’s skull to allow the brain to grow.

Reconstructive and cosmetic surgery follows to correct any irregularities, including reshaping the skull, opening up pathways to improve breathing or adjusting asymmetry in the face.

Under the supervision of your child’s healthcare provider, treatment for most children diagnosed with Pfeiffer syndrome will help them reach their full potential.

What treatments alleviate Pfeiffer syndrome's complications?

In addition to surgery, treatment is available to alleviate the complications of Pfeiffer syndrome including:

Dental procedures and orthodontics for overcrowded teeth or a high palate.

Eye procedures for poor vision.

Hearing aid use for hearing loss.

Type of Doctor Department : An ophthalmologist , orthopedist

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