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Key Fact

Rubinstein-Taybi Syndrome can also be known as Broad thumb-hallux Syndrome. This is because physical characteristics of the syndrome include broad thumbs and toes.

Physical Characteristics of Rubinstein-Taybi Syndrome

Some people believe that the descriptions of physical characteristics of a syndrome are not helpful to individuals; however, we believe that knowing the physical characteristics is important. To read about why we included physical characteristics on this website go to the key topics area and select ‘physical characteristics’ from the drop-down menu.


An individual with Rubinstein-Taybi Syndrome may have many of the following physical characteristics or only a select few. Please note that the physical characteristics of Rubinstein-Taybi Syndrome are very broad and not all individuals with Rubinstein-Taybi syndrome will have all of the physical characteristics listed below:


Growth, head size and height

Individuals with Rubinstein-Taybi Syndrome tend to show slow growth following birth.

A characteristic of the syndrome is a small head size.

Individuals with Rubinstein-Taybi Syndrome tend to be short in stature compared to the average height of individuals in the general population.


Visit the Rubinstein-Taybi Syndrome Support Group website and see the growth charts for Rubinstein-Taybi Syndrome.



Common facial features may include:

Pronounced nose with low hanging columella (skin and cartilage between nostrils)

Long eyelashes

Heavy arched eyebrows

Eyelids slope downwards

Small mouth with a high palate

‘Grimacing’ smile


The characteristic facial features of individuals with Rubinstein-Taybi syndrome are reported to change with age.  New-borns may have a pronounced forehead, eyelids that slope upwards and a straight upturned nose. In older individuals the eyelids sometimes alter to a downward slope, the nose becomes more pronounced and the face becomes more asymmetrical.  


Other physical characteristics of the syndrome include excessive hair growth also known as Hirsutism and dental irregularities (there’s more information on this in the Health section).



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