Pfeiffer syndrome type 1 — The intellect is usually normal. There is moderate to severe underdevelopment (hypoplasia) of the midface, broad and inwardly deviated thumbs and big toes with variable degree of shortening of the digits (brachydactyly). Hydrocephalus and hearing loss may also occur.
Pfeiffer syndrome type 2 — Developmental delay and mental retardation are common. There is a cloverleaf skull and extreme proptosis. The thumbs, big toes and other digits are as in type 1 but there is also ankylosis (fusion) of the elbows and knees. Other problems may include narrowing or closure of the nasal passages, laryngeal and tracheal malformations, hydrocephalus and seizures.
Pfeiffer syndrome type 3 — There is a tall short skull (turribrachycephaly). All other features are as in type 2.
Pfeiffer syndrome is inherited in an autosomal dominant manner. Type 1 is due to mutation in the FGFR1 and (more often) FGFR2 genes. Types 2 and 3 are due to mutation in the FGFR1 gene.
The health care of children with Pfeiffer syndrome is often best managed by a multidisciplinary team which may include a neurosurgeon, plastic surgeon, otolaryngologist, dentist, audiologist, speech pathologist, pediatrician, and geneticist. A dozen or more surgeries may be required over a lifetime. The first surgery is usually to relieve the premature fusion of the cranial sutures. Hydrocephalus, upper airway obstruction, and exposure of the cornea by the proptosis may require shunting, tracheostomy, and surgical eyelid closure, respectively.
The prognosis (outlook) is most favorable with Pfeiffer syndrome type 1. Types 2 and 3 carry an increased risk of early death.
- PGA (polyglandular autoimmune syndrome)
replacing the various hormones that are in short supply, giving insulin for the diabetes, treating the yeast infections, etc. However, there is no known cure for PGA. The prognosis (outlook) depends on whether the critical hormone deficiencies are remedied and especially whether the infections can be successfully controlled. PGA goes by a confusing array of […]
- pH meter
A simple and speedy device to measure the acidity and alkalinity of a fluid. A pH meter acts as a volt meter that measures the electrical potential difference between a pH electrode and a reference electrode and displays the result in terms of the pH value of the solution in which they are immersed. The […]
Doctor of Philosophy. (From the New Latin, philosophize doctor). Ph.D.’s are involved in clinical care (as in clinical psychology), biomedical research, health administration and other areas in medicine.
A type of cataract surgery in which the lens with the cataract is broken up by ultrasound, irrigated, and suctioned out.
Short for bacteriophage, a virus that lives within a bacteria. A virus for which the natural host is a bacterial cell. Bacteriophages have been very important and heuristic in bacterial and molecular genetics. Phages were studied by (among others) Alfred Hershey, Max Delbruck and Salvador Luria who discovered that viruses could exchange genetic material. Hershey […]