Pierre Robin's sequence

Common Name(s)

Pierre Robin's sequence, Pierre Robin Sequence

Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. Pierre Robin sequence may occur alone or be associated with a variety of other signs and symptoms, such as bifid uvula (a split in the soft flap of tissue that hangs from the back of the mouth), cleft palate, conductive hearing loss, recurring ear infections, eye anomalies (e.g., hypermetropia, myopia, astigmatism), heart defects, joint and skeletal anomalies, central nervous system defects (e.g., language and neurodevelopmental delay, epilepsy, hypotonia, and hydrocephalus) and genitourinary defects (e.g., undescended testes, hydronephrosis, and hydrocele).  The exact causes of Pierre Robin syndrome are unknown, however it may occur as part of a variety of different genetic syndromes.

 

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pierre Robin's sequence" for support, advocacy or research.

Pierre Robin Sequence Foundation

a) The organisation’s main objectives are to create awareness of Pierre Robin Sequence and associated syndromes worldwide. b) The organisation’s secondary objectives will be to work in collaboration with other organisations that mainly deals with children’s health, welfare, transformation and education c) The priority and focus would be to provide the financial assistance for children requiring facial cranial reconstructive surgery who would otherwise not have the means to do so.

Last Updated: 29 Apr 2014

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

Last Updated: 7 Nov 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pierre Robin's sequence" for support, advocacy or research.

Pierre Robin Sequence Foundation

a) The organisation’s main objectives are to create awareness of Pierre Robin Sequence and associated syndromes worldwide. b) The organisation’s secondary objectives will be to work in collaboration with other organisations that mainly deals with children’s health, welfare, transformation and education c) The priority and focus would be to provide the financial assistance for children requiring facial cranial reconstructive surgery who would otherwise not have the means to do so.

http://www.pierrerobin.org.za

Last Updated: 29 Apr 2014

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Nov 2013

View Details

 

General Support Organizations

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General Resources

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Updated 24 Oct 2013

Open Doc
Pierre Robin Sequence

Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a hypoplastic mandible and difficulty breathing.

Updated 24 Oct 2013

Open Doc
Campomelic dysplasia

What is campomelic dysplasia? Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period.

Updated 24 Oct 2013

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Updated 24 Oct 2013

Open Doc
A New Grading of Pierre Robin Sequence

A New Grading of Pierre Robin Sequence

Updated 24 Oct 2013

Open Doc
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pierre Robin's sequence" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pierre Robin's sequence" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children
 

Status: Recruiting

Condition Summary: Infants; Difficult Airway

 

Last Updated: 10 Aug 2012

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