Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
It is named after Rudolf Arthur Pfeiffer (b. 1931) who, in 1964, described a list of features that included a coronal synostosis, turribrachycephaly (high prominent forehead) and maxillary hypoplasia (eyes with a bulging appearance due to small underlying cheek bones). Pfeiffer syndrome affects about 1 in 100,000 births.
Read more about Pfeiffer Syndrome: Genetics, Presentation, Classification
Famous quotes containing the word syndrome:
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leech’s daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (1906–1989)