Pfeiffer Syndrome, first described by Rudolf Pfeiffer, a German geneticist in 1964, is a genetic disorder characterized by craniosynostosis, broad thumbs, broad great toes, and occasionally, a partial syndactyly (cutaneous and bony fusion) involving the second and third digits. The patient with Pfeiffer’s syndrome has a similar craniofacial deformity to that of the Apert’s and Crouzon’s syndromes patients. However, the midface in Pfeiffer’s syndrome patients is usually more severely affected.
The physical characteristics of Pfeiffer’s syndrome include:
- Craniosynostosis-usually bicornonal synostrosis (brachycephaly) and occasionally sagittal synostosis
- Bulging wide-set eyes due to shallow eye sockets
- Underdevelopment of the midface
- Broad, short thumbs and big toes
- Possible webbing of the hands and feet
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is a 50% chance that children of a patient with Pfeiffer’s syndrome will inherit the disease. Sporadic cases (unaffected parents) are rare but do occur occasionally.
Symptoms vary ranging from very mild to severe. The head is unable to grow normally due to premature closure of the coronal and basal sutures, which leads to bulging and wide-set eyes, beaked nose, maxillary retrusion, and an underdeveloped forehead, midface and upper jaw. Additionally, the thumbs and big toes are broader than normal and bend away from the other digits. The broad short thumbs and big toes are the hallmark of the syndrome. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). High arched palate and prominent lower jaw are also characteristic. About 50% of children with Pfeiffer’s syndrome also have mild hearing loss due to a defect in their middle ear.
Pfeiffer’s syndrome is divided clinically into three subtypes; Type 1 or “classic” Pfeiffer’s syndrome has symptoms as described above and most individuals with type 1 have normal intelligence and a normal life span.Types 2 and 3 are more severe forms of Pfeiffer syndrome, often involving problems with the central nervous system. Type 2 is distinguished from type 3 by more extensive fusion of the skull bones leading to a “cloverleaf” shaped head.
In addition to the physical characteristics of Pfeiffer’s syndrome, the severe ocular proptosis usually puts Pfeiffer’s syndrome patients at risk for corneal exposure, dental problems are also common and teeth typically erupt in improper positions.
Other associated anomalies that may occur in more severe forms of the syndrome include cloanal atresia, tracheo and bronchomalacia, cloverleaf skull, abnormalities of the vertebrae, Arnold-Chiari malformation, hydrocephalus, and imperforate anus. Seizures and mental retardation may develop.
Physical examination can usually make the diagnosis. Plain X-rays, computer tomography (CT) scans and magnetic resonance imaging (MRI) are all useful to show the premature fusion of the coronal (or other) cranial sutures and confirm the diagnosis. The radiologic features are similar to those of Apert’s and Crouzon’s syndromes.
Like other craniosynostosis syndromes such as Apert’s and Crouzon’s syndromes, optimum treatment consists of an organized staged treatment plan. Additional surgery such as nasal or Jaw surgery may be required according to the severity of the syndrome.
The prognosis of Pfeiffer’s syndrome depends on the severity of the associated anomalies. Type I has in general a good prognosis and with proper treatment, most children have normal intelligence, good cosmetic outcomes and lead normal lives. Types II and III are usually not compatible with life, and unfortunately death occurs early.
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