Signs and Symptoms of Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome is a Genetic Disorder

Apr 4, 2009 Debbie Roome

Rubinstein-Taybi Syndrome presents in approximately one in 300,000 births, and is accompanied by a range of physical and mental disabilities.

Rubinstein-Taybi Syndrome was first identified in 1963 and is still relatively unknown. While there is no cure, treatment is available and understanding the condition makes it easier to cope with.

Mental Retardation

People with Rubinstein-Taybi Syndrome, normally have an IQ of between 25 and 80. This classes their mental disability as moderate to severe.

Short Stature

This is evident from childhood and the average height of an adult male is 5 foot, and a female, 4 foot 10 inches.

Broad thumbs and toes

This is a distinguishing feature and thumbs may be angulated meaning the individual cannot grasp items properly. This can be corrected surgically but may result in the thumb being rigid without a bendable joint.

Beaked Nose

A high beaked nose is a common sign of Rubinstein-Taybi Syndrome.

High Arched Palate and Dental Problems

The majority of people with the condition will have a high palate and problems with their teeth. They seem more susceptible to developing cavities and many need orthodontic work to correct crowding.

Speech Problems

Speech is often delayed and some people with Rubinstein-Taybi Syndrome will remain mostly non-verbal. Those that learn to talk, often have indistinct speech and will typically understand more than they can communicate. Speech therapy can help to a certain extent.

Microcephaly

This refers to the condition where a person’s head is significantly smaller than the normal range for their sex and age. It is linked to poor brain growth and mental retardation.

Undescended Testicles in Males

This is common and can be corrected surgically – normally before the boy turns two.

Feeding Difficulties

Sucking and swallowing reflexes are often weak and infants may suffer from reflux and projectile vomiting. This in turn, causes a failure to thrive. In teen years and adulthood, people with Rubinstein-Taybi Syndrome may become obese and constipation is often a life-long problem. They can also be picky eaters.

Orthopedic Problems

Problems include displaced kneecaps and these may need to be surgically removed. Scoliosis is another problem and many people with Rubinstein-Taybi Syndrome have poor balance and walking difficulties, especially in their older years.

Congenital heart defects

These are present in approximately 35-40% of people with Rubinstein-Taybi syndrome. Some of the defects are mild while others are more serious and may require surgery.

Eye Problems

Eyes are normally downward slanting and have prominent eyebrows and eyelashes. Abnormalities include crossed eyes, tear duct obstruction and cataracts.

Behavior

People with Rubinstein-Taybi Syndrome rarely present with behavior problems. By nature, they are sunny and outgoing and love to be around people. A lack of social inhibition may cause amusement and embarrassment, but their intentions are rarely malicious.

Many families with a Rubinstein-Taybi Syndrome child have found them to be a joy to be around. There is help to be had for most aspects of the syndrome and with love and care, the child can grow into a happy, secure adult.

The copyright of the article Signs and Symptoms of Rubinstein-Taybi Syndrome in Disabilities is owned by Debbie Roome. Permission to republish Signs and Symptoms of Rubinstein-Taybi Syndrome in print or online must be granted by the author in writing.

42 Year Old Female with Rubinstein-Taybi Syndrome

Typical Appearance of Toes in Rubinstein-Taybi

Sugically Corrected Thumb in Rubinstein-Taybi Case

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