Rubinstein-Taybi Syndrome check for more info is a rare genetic disorder characterized by medium to marked intellectual disability, prominent first and second hands, short stature, broad fingers and thumbs, and wide feet and toes. Other physical features associated with the syndrome include heart and kidney abnormalities, heart defects, and eye defects.
Rubinstein-Taybi Syndrome is caused by genetic mutations in the chromosome that affects the development of muscles and organs. There is a deletion in chromosome number ten. The syndrome is classified into four different types, each with a separate diagnosis. The most common type is called Rubinstein-Gabel-Strickland, which affects approximately one in every 400 births and can result in cerebral palsy, heart disease or death.
Rubinstein-Gabel-Strickland is the first known hereditary form of Rubinstein-Gabel Syndrome and involves a deletion in chromosome number four. It is also characterized by an increased risk of diabetes and heart disease. Another variant is called Rubinstein-Neuhertz-Rhee-Abraham syndrome, which is characterized by cerebral palsy, severe heart defects, a growth disorder in the body and an increased risk of cancer and infection. Deletion of chromosome number three, which results in the condition known as de novo-abnormality of chromosome 11, is another variation of Rubinstein-Gabel Syndrome.
Rubinstein-Gabel-Strickland has a higher incidence of Down syndrome. Deletion of chromosome number seven, which results in Rubinstein-Neuhertz-Rhee-Abraham syndrome, is also linked to the development of cerebral palsy and other mental disorders. Deletion of chromosome number eight, which is involved in the development of heart conditions, leads to heart diseases, congenital heart defects, congenital heart blockage, or heart arrhythmia, is also linked to a higher incidence of heart disease. In addition, deletions in chromosomes two and three, which results in the condition known as deletiazid-protein-synthetis-mi6, leads to eye and brain defects.
Rubinstein-Gabel-Strickland and de novo-abnormality of chromosome numbers four and six, which are caused by mutations in genes on the X and Y, respectively, have an increased incidence of birth defects. Rubinstein-Gabel-Strickland also has a higher chance of being inherited from the paternal side of the family.
Rubinstein-Gabel-Strickland syndrome is the only form of Rubinstein-Gabel Syndrome that affects boys. The other forms of this syndrome are characterized by a female predisposition. Rubinstein-Gabel-Strickland can affect either a single X chromosome or a multi-sex chromosome and is the cause of the condition known as X-linked Rubinstein-Gabel Syndrome. Deletion of chromosome number eleven in a male child is referred to as X-linked Rubinstein-Gabel Syndrome and is found in about one in twenty births. A deletion in chromosome number twelve, which is called multi-sex, occurs in about one in forty births and is the cause of the condition called Klinefelter Syndrome.