Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla. More detailed information about the symptoms, causes, and treatments of Rubinstein-Taybi Syndrome is available below.
See full list of 56 symptoms of Rubinstein-Taybi Syndrome
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See full list of 26 occasional symptoms of Rubinstein-Taybi Syndrome
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Types of Rubinstein-Taybi Syndrome
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A syndrome of broad thumbs and halluces, typical dysmorphic facies, delayed mental and physical development, pulmonary stenosis, large foramen magnum, vertebral and sternal deformities, dermatoglyphic changes, and other anomalies. - (Source - Diseases Database)
Rubinstein-Taybi Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Rubinstein-Taybi Syndrome, or a subtype of Rubinstein-Taybi Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Rubinstein-Taybi Syndrome as a "rare disease".
Source - Orphanet
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