Introduction
In 1964, Rudolf Pfeiffer discovered an acrocephalosyndactyly syndrome linked with hypertelorism, broad thumbs, antimongoloid slant large toes, and a normal IQ. He documented eight cases spread across three generations of a family, with two instances of male-to-male transmission, indicating an autosomal dominant mode of heredity.
What Is Pfeiffer Syndrome?
Pfeiffer syndrome is an inherited craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, broad thumbs and large toes, and different degrees of soft tissue syndactyly of the hands (typically the second and third fingers) and feet. The majority of the affected patients experience conductive hearing loss. It is also known as Noack syndrome, craniofacial-skeletal-dermatologic dysplasia, or type V acrocephalosyndactyly.
What Causes Pfeiffer Syndrome?
A specific mutation in the fibroblast growth factor receptor gene (FGFR1 or FGFR2) results in Pfeiffer syndrome. This gene also causes other craniofacial deformities, including Crouzon and Apert syndromes. The precise reason for these gene alterations is unknown to experts. Most parents of children with Pfeiffer syndrome have typical genes. Pfeiffer syndrome sufferers can, however, convey the gene to their offspring. A newborn born to a parent with Pfeiffer syndrome has a 50 percent risk of inheriting it. Consult the geneticist if one has Pfeiffer syndrome and wants to become a parent.
What Are the Subtypes of Pfeiffer Syndrome?
There are three subtypes of Pfeiffer syndrome. They are:
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Type 1: Pfeiffer syndrome is distinguished by premature skull fusion, finger and toe deformities, and sunken cheekbones. A youngster's brain development and intellectual abilities are usually comparable to that of other children. Fluid buildup in the brain and hearing loss are possible symptoms of type 1 Pfeiffer syndrome. Individuals with type 1 Pfeiffer syndrome have normal lifespans if the syndrome is successfully treated because it is a milder disease variant.
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Type 2: People with type 2 Pfeiffer syndrome have cloverleaf-shaped skulls due to excessive fusion of the skull bones. Type 2 causes significant neurological impairments, has a poor prognosis, and frequently leads to premature death. The other symptoms are abnormal eye protrusions that may impair eyesight, fusion of elbow and knee joints, anomalies in the fingers, anomalies in the toes, neurological problems.
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Type 3: Except for the cloverleaf skull, type 3 Pfeiffer syndrome presents the same problems as type 2. People with type 3 Pfeiffer syndrome frequently have a bad prognosis and may die young.
What Are the Symptoms of Pfeiffer Syndrome?
The complicated genetic condition known as Pfeiffer syndrome may affect the child's face, head, feet, and hands. Clinical characteristics might range from mild to severe, depending on the child.
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Craniosynostosis: The term 'craniosynostosis' refers to the premature (early) closure of the skull's growth plates, which can alter the form of the head and increase pressure on the brain. The center of their faces up makes skulls look 'too tall' and 'overly flat' as a result.
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Brachydactyly: Short fingers and toes are known as brachydactyly.
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Syndactyly: Webbing or fusion between the fingers or toes.
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Midfacial Hypoplasia: Reduced growth in the face's center gives the appearance of a sunken face. This may also result from a concave facial profile, sleep apnea, and even airway obstruction.
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Proptosis: Protruding eyes.
Other features include
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Crowded teeth.
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Hearing loss.
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Fused joints.
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Big toes and wide thumbs that bend away from other digits.
How to Diagnose Pfeiffer Syndrome?
Pfeiffer syndrome is typically diagnosed based on the child's face and skull appearance at birth. A skilled craniofacial team will confirm a diagnosis and assist in making decisions about the child's treatment. To ensure the diagnosis, a professional craniofacial surgeon and geneticist will examine the infant and may request an X-ray or a computed tomography (CT) scan. A sample of blood or saliva can also be used for genetic testing.
How to Treat Pfeiffer Syndrome?
As corrective surgery experience is minimal, the primary goals of surgery are to decompress the brain by increasing intracranial volume, to broaden the nasopharynx by advancing the naso-maxillary-zygomatic complex, and to widen the infraorbital volume. The usual treatment regimen for patients suffering from Pfeiffer syndrome is a series of phased operations. In the first year of life, a suturectomy is performed to free the intracranial space, facilitating brain expansion. Other problems can be repaired cosmetically by surgery. TCS (Treacher Collins syndrome) patients typically require a tracheostomy to treat obstructive sleep apnea caused by choanal stenosis, maxillary hypoplasia, and macroglossia. The trachea will be stiff in these patients, making the proper size of tracheostomy tubes difficult. This, in turn, may result in increased granulation tissue production and related problems. The parents of any child with TCS should be counseled about the need for a tracheostomy, which can alter the prognosis and quality of life later on.
How Is the Prognosis of Pfeiffer Syndrome?
The intellectual outcome of type I PS is relatively favorable. The prognosis for types II and III is quite poor due to neurodevelopmental problems, with death occurring often in childhood. The severity of the syndrome determines a patient's prognosis; however, craniofacial appearance normally improves with age.
Conclusion
Pfeiffer syndrome is a rare genetic condition that causes premature fusion of some skull bones (craniosynostosis) and unusually large and medially deviated toes and thumbs. The majority of those affected also have midface differences (protruding eyes) and conductive hearing loss.
