What is Pfeiffer's syndrome?
Pfeiffer syndrome is a genetic state that causes premature fusion of bones in the skull, which can lead to craniophial abnormalities. There are a number of genetic states involving the early bone fusion in full, known in general as craniophial disorders. There are three forms of Pfeiffer syndrome, with types II and III are more serious than type I. This condition has been recognized since the 1960s and is relatively rare. Instead of allowing the skull stitches to remain flexible so that the skull can grow, the insurance process of these futures starts too early. MidFace tends to be inadequately developed and the skull may have a special appearance because the growth was soon arrested. Many patients have hearing problems, protruding eyes and dental problems due to the fact that the structure associated with the face is trying to grow even after the skull fuses. In patients with types II and III, developmental delay may occur because the brain must not develop fully.
Prishery patients with Pfeiffer syndrome also tend to have unusually large thumbs and large fingers and some experience straps between the fingers and fingers. Treatment options may include surgery to deal with face structure. Depending on whether the brain is involved, some patients may lead an active and healthy life with a normal degree of cognitive development. Other patients may cause cognitive disabilities and may require personal helpers and other help to help with tasks they cannot complete themselves.
If one parent has a Pfeiffera syndrome, there is a 50 % chance that each children will also have a condition because they have to inherit one copy of the gene involved. In cases where both parents have, their children have a high chance of inheritance, even if two healthy genes can be inherited from their parents. Spontaneous mutations where the child develops Pfeiffer syndrome and there is no history of this condition in parents, even if they are rare. In these cases, no future rubs wouldThey were not supposed to have this disorder.
People who are afraid of genetic conditions and their children can choose genetic testing before performing pregnancy to see if there are any conditions that they could pass on in their genes. If it exists, a genetic advisor can provide advice on the forwarding procedure with pregnancy; Parents may want to be informed about what to expect if their children inherit a failure or discuss the use of assisted reproductive technologies to reduce the risk of handing over to their children.