What is Rubinstein-Taybi Syndrome?

What is Rubinstein-Taybi Syndrome?

• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• 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 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

Rubinstein-Taybi Syndrome: Introduction

Types of Rubinstein-Taybi Syndrome:

Broader types of Rubinstein-Taybi Syndrome:

• Growth conditions
• Hand conditions
• Foot conditions
• Lower limb conditions
• Upper limb conditions
• Limb conditions
• Head conditions
• Musculoskeletal conditions
• Bone or skeletal conditions
• more types...»

How many people get Rubinstein-Taybi Syndrome?

Prevalance of Rubinstein-Taybi Syndrome: estimated 1 per 100,000 - 125,000 newborns suffer from Rubinstein-Taybi syndrome, Genetics Home Reference website
Prevalance Rate of Rubinstein-Taybi Syndrome: approx 1 in 100,000 or 0.00% or 2,720 people in USA [about data]

How serious is Rubinstein-Taybi Syndrome?

Complications of Rubinstein-Taybi Syndrome: see complications of Rubinstein-Taybi Syndrome

What causes Rubinstein-Taybi Syndrome?

Causes of Rubinstein-Taybi Syndrome: see causes of Rubinstein-Taybi Syndrome

What are the symptoms of Rubinstein-Taybi Syndrome?

Symptoms of Rubinstein-Taybi Syndrome: see symptoms of Rubinstein-Taybi Syndrome

Complications of Rubinstein-Taybi Syndrome: see complications of Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome: Testing

Diagnostic testing: see tests for Rubinstein-Taybi Syndrome.

Misdiagnosis: see misdiagnosis and Rubinstein-Taybi Syndrome.

How is it treated?

Treatments for Rubinstein-Taybi Syndrome: see treatments for Rubinstein-Taybi Syndrome
Research for Rubinstein-Taybi Syndrome: see research for Rubinstein-Taybi Syndrome

Name and Aliases of Rubinstein-Taybi Syndrome

Main name of condition: Rubinstein-Taybi Syndrome

Rubinstein syndrome, Broad thumbs and great toes, characteristic facies, and mental retardation, RSTS, RTS, Broad thumb-hallux syndrome

Rubenstein-Taybi syndrome (sic) Source - Diseases Database

Broad thumb-hallux syndrome, Broad thumbs and great toes, characteristic facies, and mental retardation, RSTS, RTS (Rubinstein-Taybi syndrome), Rubinstein syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Rubinstein-Taybi Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Rubinstein-Taybi Syndrome:

• Short stature
• Learning difficulties
• Broad thumbs and toes
• Distinctive facial features
• Leukemia
• Lymphoma
• Autosomal dominant disorder

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