A-Z of syndromes: Pfeiffer syndrome
Pfeiffer syndrome is a genetic condition thought to occur once in every 100,000 people
Pfeiffer syndrome is a genetic condition thought to occur once in every 100,000 people. There is a trajectory of severity with some children having barely perceptible markers for the syndrome while others are severely affected. If an individual who has the syndrome has children the child will have a 50% chance of being affected.
Pfeiffer syndrome is characterised by craniosynostosis. In Pfeiffer syndrome sutures, that normally fuse in the skull over years when head growth is completed, fuse before birth. Generally, the more sutures that are fused the more severely the infant will be affected.
The face can be affected, with the infant having eyes that are spaced widely apart and the eyes may appear to bulge because the eye sockets are too shallow. The forehead can appear to be high and they may have a narrow beaked nose. The jaws can be underdeveloped.
Because of the premature fusion of the skull plates the intracranial pressure can be raised, the ventricular drainage impaired and hydrocephalus can occur. Children with Pfeiffer syndrome may have learning disabilities, developmental delay, the hearing may be affected and there can be speech and language difficulties.
Pfeiffer syndrome has been classified into three types. In type I, the effects caused by the mutation are mild and the appearance of the child is unaffected. Although there may be wide thumbs and big toes. Type 2 and 3 are more severe. The shape of the head and the face can be abnormal. When the skull is short from front to back and elongated the medical term turricephalic may be used. The main difference between type 2 and type 3 is the presence of hydrocephalus and this can mould the skull into a cloverleaf shape.
Diagnosis and testing
The diagnosis can be made antenatally with the 18-20-week anomaly scan, other children can be identified at birth if they display the characteristics of Pfeiffer syndrome. Genetic tests may be used to confirm the diagnosis. Severely affected children will need serial X-rays, computed tomography (CT) or magnetic resonance imaging (MRI) to monitor bone growth before and identify hydrocephalus.
Children with Pfeiffer syndrome are best managed in a specialist centre, where all the specialists required are present in the same location. Surgery will result in the skull being reshaped and where required a shunt will be inserted to manage hydrocephalus.
Surgery is likely to be repeated several times to improve the cosmetic effect and the child may be managed using a rigid external fixation device which will allow the shaping to take place over several weeks. The use of a fixation device is reported to be extremely painful and the child will need adequate analgesic and plenty distraction to help them cope with this form of management. Some children with Pfeiffer syndrome develop eating disorders and may be fed through gastrostomy.
Thomas - not his real name - was born at an average weight and there were no concerns during pregnancy.
At eight weeks old, he was rushed into a large children’s hospital with suspected meningitis. While he was being treated with intravenous antibiotics he was examined by paediatricians who identified the raised ridge on his forehead and the appearance of large thumbs in relation to the rest of his fingers. The immediate concern was to manage the meningitis but as soon as he was recovered the team arranged for a CT scan to be performed before discharge.
The CT scan identified a craniosynostosis that would need surgery. The family was discharged and managed on an outpatient basis. The surgery was scheduled to take place when Thomas was between 12 and 18 months old as the surgeons felt that in this case, surgery at that time would provide the best results.
The surgery was uneventful, the post-operative phase straightforward and the cosmetic result was good. However, Thomas and his family have frequent appointments to monitor his progress. The parents have been forewarned that further surgery may be needed as Thomas grows.
- FACES: Pfeiffer Syndrome
- Genetics Home Reference: Pfeiffer Syndrome
- Great Ormond Street Hospital: Pfeiffer Syndrome
- Headlines: Patient information – Pfeiffer syndrome
Doreen Crawford is nurse adviser with consultancy Crawford McKenzie and consultant editor of Nursing Children and Young People.