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Dictionary » Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome

Introduction: Rubinstein-Taybi syndrome

Description of Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (medical condition): A rare congenital disorder characterized by very small...more »

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Rubinstein-Taybi Syndrome:
  »Introduction: Rubinstein-Taybi Syndrome
  »Symptoms of Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome: 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: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Source: MeSH 2007

Rubinstein-Taybi syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Rubinstein-Taybi syndrome:

Rubinstein-Taybi syndrome: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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 if affects 1 person per 2,000. They list Rubinstein-Taybi syndrome as a "rare disease".

Source - Orphanet

Rubinstein-Taybi syndrome as a Disease

Rubinstein-Taybi syndrome (medical condition): See Rubinstein-Taybi Syndrome (disease information).
  »Introduction: Rubinstein-Taybi Syndrome
  »Symptoms of Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome: Related Diseases

Rubinstein-Taybi syndrome: Rubinstein-Taybi syndrome is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Rubinstein-Taybi Syndrome:

Rubinstein-Taybi syndrome: Related Disease Topics

These medical disease topics may be related to Rubinstein-Taybi syndrome:

Terms associated with Rubinstein-Taybi syndrome:

Terms Similar to Rubinstein-Taybi syndrome:

Source: Diseases Database

Source - NIH

Source - MeSH 2007

Related Topics

Source - MeSH 2007

Broader terms for Rubinstein-Taybi syndrome

Source - MeSH 2007

Hierarchical classifications of Rubinstein-Taybi syndrome

The following list attempts to classify Rubinstein-Taybi syndrome into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

External links related to: Rubinstein-Taybi syndrome

Source: Diseases Database

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