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Diseases » Roberts syndrome » Summary

What is Roberts syndrome?

What is Roberts syndrome?

  • Roberts syndrome: A very rare genetic disorder involving a range of physical abnormalities.
  • Roberts syndrome: Symmetrical phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym SC-pseudothalidomide syndrome), flexion contractures of the joints, facial anomalies, micrognathia, scanty blond hair, cloudy corneae, delayed growth, and occasional mental retardation. SC phocomelia and Roberts syndrome are considered by some as the same entity termed Roberts-SC phocomelia syndrome. The syndrome was first observed in a family with surname beginning with S and another with surname beginning with C.
    Source - Diseases Database

Roberts syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Roberts syndrome, or a subtype of Roberts 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 Roberts syndrome as a "rare disease".
Source - Orphanet

Roberts syndrome: Introduction

Types of Roberts syndrome:

Broader types of Roberts syndrome:

How serious is Roberts syndrome?

Complications of Roberts syndrome: see complications of Roberts syndrome

What causes Roberts syndrome?

Causes of Roberts syndrome: see causes of Roberts syndrome

What are the symptoms of Roberts syndrome?

Symptoms of Roberts syndrome: see symptoms of Roberts syndrome

Complications of Roberts syndrome: see complications of Roberts syndrome

Can anyone else get Roberts syndrome?

More information: see contagiousness of Roberts syndrome
Inheritance: see inheritance of Roberts syndrome

Roberts syndrome: Testing

Diagnostic testing: see tests for Roberts syndrome.

Misdiagnosis: see misdiagnosis and Roberts syndrome.

How is it treated?

Doctors and Medical Specialists for Roberts syndrome: Medical Geneticist ; see also doctors and medical specialists for Roberts syndrome.
Treatments for Roberts syndrome: see treatments for Roberts syndrome
Research for Roberts syndrome: see research for Roberts syndrome

Name and Aliases of Roberts syndrome

Main name of condition: Roberts syndrome

Other names or spellings for Roberts syndrome:

Long bone deficiencies associated with cleft lip-palate, RBS

Tetraphocomelia-cleft lip-palate syndrome, Roberts pseudothalidomide syndrome, Appelt-Gerken-Lenz syndrome Source - Diseases Database

Long bone deficiencies associated with cleft lip-palate, RBS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Roberts syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Roberts syndrome:


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