Rubinstein-Taybi Syndrome (Gene Promoter Involvement)

Below you will find more information about Rubinstein-Taybi Syndrome (Gene Promoter Involvement) from Medigest. If you believe that you are suffering from any of the symptoms of Rubinstein-Taybi Syndrome (Gene Promoter Involvement) it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Rubinstein-Taybi Syndrome (Gene Promoter Involvement) and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Rubinstein-Taybi Syndrome (Gene Promoter Involvement) comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Rubinstein-Taybi syndrome, also called Broad Thumb-Hallux syndrome, is a condition characterized by moderate to severe mental retardation, short stature, broad thumbs and first toes, distinctive facial features, and short stature. A distinction can be made between Rubinstein-Taybi like syndrome and Rubinstein-Taybi syndrome; the latter has gene promoter involvement.

Symptoms and Signs

Classical presentations of Rubinstein-Taybi syndrome include: mental disability/retardation (ranges from moderate to severe); broad thumbs and first toes; cryptorchidism in males; unusual face with oddly formed eyes, nose and palate; plus small stature (height), small head, and bone growth defects. Other symptoms of the disease vary. It is believed that patients with Rubinstein-Taybi syndrome have an increased risk of developing cancerous and noncancerous tumors, lymphoma, and leukemia.

Causes

Rubinstein-Taybi syndrome is a rare hereditary disease inherited via the autosomal dominant trait. Approximately 1 in 125,000 babies are born with Rubinstein-Taybi syndrome. Rubinstein-Taybi syndrome is caused by mutations in the CREBBP gene. The CREBBP gene is primarily responsible for producing CREB binding protein, a type of protein that regulates cell growth and is essential for normal fetal development. If a copy of the CREBBP gene is mutated, normal development is disrupted before and after birth, leading to classical signs of Rubinstein-Taybi syndrome. A small percentage of known cases are also associated with mutations in the EP300 gene, which result in the loss of one copy of the gene in each cell, leading to the reduction of amounts of p300 protein by half. The loss of one copy of EP300 gene leads to problems in normal fetal development.

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