Pfeiffer syndrome is a really uncommon genetic illness characterized by the premature fusion of certain bones of the skull that affect the shape of the face and head. Additionally, the syndrome includes abnormalities of the hands (like broad and deviated thumbs) and feet (for instance, broad and deviated large toes). Pfeiffer syndrome affects approximately 1 in 100,000 births.
Infants with Pfeiffer syndrome could be born with bulging, wide-set eyes, a high forehead and sunken mid-face, and a beaked nose. Their hands and feet may also be webbed, or unusually short and broad.
There are 3 types of Pfeiffer syndrome: type 1 is normally a milder type, whereas forms 2 and 3 are far more acute. Infants with type two have what is called a clover-leaf skull, where the bones of their head resemble a tri-lobed clover form.
Most babies do not die from Pfeiffer syndrome, and many babies with type 1 grow up to have a normal lifespan and normal intelligence. But many will also require extensive surgeries to correct their skeletal abnormalities and facial disfigurements, and some can also have hearing loss or dental problems.
Signs and symptoms of Pfeiffer syndrome
A number of the characteristic facial features result from the premature fusion of the skull bones (craniosynostosis). The head is unable to grow normally, which contributes to high prominent forehead (turribrachycephaly), and eyes that seem to bulge (proptosis) and therefore are wide-set (hypertelorism). Additionally, there’s an underdeveloped upper jaw (maxillary hypoplasia). Approximately 50 percent of children with Pfeiffer have hearing loss, and dental problems are also common.
In individuals with Pfeiffer syndrome, the thumbs and first (large) feet are broad and bend away from the other specimens (pollex varus and hallux varus). Unusually short fingers and feet (brachydactyly) are also common, and there can be some webbing or fusion between the digits (syndactyly).
Cause of Pfeiffer syndrome
Pfeiffer is closely associated with mutations in this fibroblast growth factor receptor 1 (FGFR1) on chromosome 8 or the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. These genes code for fibroblast growth factor receptors, which can be important for normal bone growth. Advanced paternal age is supposed to be a risk factor for sporadic instances of Pfeiffer syndrome because of an increase in mutations in semen as men become older.
