rubinstien+syndrome

CAUSES
Rubinstein Syndrome is caused by the mutation of the CREBBP gene. The protein CREB plays a very important role in the cells life cycle. It is also very important in normal fetal development. When the CREBBP gene is mutated or deleted it only creates half the normal CREB protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. In some cases, it is inherited in an autosomal dominant fashion, which means that if just one parent passes on the defective gene, the child will be affected. =Symptoms=
 * Broadening of the thumbs and big toes
 * Constipation[[image:http://t2.gstatic.com/images?q=tbn:ANd9GcStKT-9CUsf8ohdnX5ARg9i2fm52Y166NxTi_Is3U55ImmcHRBR width="127" height="190" align="right"]]
 * Excess hair on body
 * Seizures
 * Mental retardation
 * Heart defects can possible lead to surgery
 * Slow development of cognitive skils
 * Slow development of motor skills accompained by low muscle tone

=﻿Treatment= Rubinstien Syndrome does not have any exact treatment. Some symptoms such as mental retardation can be helped but not completely treated. Things such as speech and cognitive therapy will help with mental retardation. More treatments can be repairing of thumbs and toes to help with grasping and relieve discomfort. The way to do this treatment is surgical. Rubinstien Syndrome is not a server case in some situations and treatment is not required at all.

=Research = Causes where found at [] Symptoms where found at [] Treatment was found at [] First picture from [] Second picture from [] Third picture from []