Overview
This Orphanet entry (code 138063) is labeled as 'OBSOLETE: Syndrome associated with Pierre Robin syndrome,' meaning it is no longer an active or recognized classification in the Orphanet rare disease database. It was previously used as a grouping term for conditions that occur alongside Pierre Robin sequence (also called Pierre Robin syndrome). Pierre Robin sequence itself is a condition present at birth that involves three main features: a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a gap in the roof of the mouth (cleft palate). These features can cause serious breathing and feeding difficulties in newborns. Because Pierre Robin sequence can appear as part of many different genetic syndromes — such as Stickler syndrome, Treacher Collins syndrome, velocardiofacial syndrome (22q11.2 deletion syndrome), and others — this obsolete grouping was once used to capture those overlapping conditions. Since this code is no longer in use, patients and families who were previously classified under this term should work with their clinical genetics team to identify the specific underlying syndrome causing their Pierre Robin features. Proper diagnosis of the specific syndrome is essential because each condition has its own genetic cause, inheritance pattern, prognosis, and management plan. Treatment for Pierre Robin sequence generally focuses on securing the airway, supporting feeding, and surgically repairing the cleft palate when present.
Also known as:
Key symptoms:
Very small or recessed lower jawTongue falling back into the throat causing airway blockageOpening or gap in the roof of the mouth (cleft palate)Difficulty breathing, especially when lying on the backFeeding difficulties and poor weight gainNoisy breathing or snoring in infancyEpisodes of choking or turning blueEar infectionsHearing problemsSpeech difficultiesFacial differences depending on the underlying syndromePossible eye problems such as nearsightednessPossible joint or skeletal abnormalitiesPossible heart defects depending on the specific syndrome
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
3 eventsHETLIOZ: FDA approved
Treatment of nighttime sleep disturbances in Smith-Magenis Syndrome (SMS) in patients 16 years of age and older
Chirostim: FDA approved
Stimulation of pancreatic secretions, including bicarbonate, to aid in the diagnosis of pancreatic exocrine dysfunction, stimulation of gastrin secretion to aid in the diagnosis of gastrinoma, and stimulation of pancreatic secretions to facilitate the identification of the ampulla of Vater and accessory papilla during endoscopic retrograde cholangiopancreatography
Secreflo: FDA approved
Use in secretin stimulation testing for stimulation of gastrin secretion to aid in the diagnosis of gastrinoma
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableSecreflo
Use in secretin stimulation testing for stimulation of gastrin secretion to aid in the diagnosis of gastrinoma
Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Syndrome associated with Pierre Robin syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Syndrome associated with Pierre Robin syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesHETLIOZ
Vanda Pharmaceuticals, Inc.
Travel Grants
No travel grants are currently matched to OBSOLETE: Syndrome associated with Pierre Robin syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has a specific genetic syndrome been identified as the cause of my child's Pierre Robin sequence?,What genetic testing do you recommend to find the underlying cause?,How severe is my child's airway obstruction, and what treatment approach do you recommend?,What feeding strategies or devices should we use, and should we see a feeding specialist?,When will cleft palate repair surgery be recommended, and what should we expect?,What other specialists should my child see regularly (hearing, vision, heart)?,Are there any clinical trials or new treatments we should know about?
Common questions about OBSOLETE: Syndrome associated with Pierre Robin syndrome
What is OBSOLETE: Syndrome associated with Pierre Robin syndrome?
This Orphanet entry (code 138063) is labeled as 'OBSOLETE: Syndrome associated with Pierre Robin syndrome,' meaning it is no longer an active or recognized classification in the Orphanet rare disease database. It was previously used as a grouping term for conditions that occur alongside Pierre Robin sequence (also called Pierre Robin syndrome). Pierre Robin sequence itself is a condition present at birth that involves three main features: a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a gap in the roof of the mouth (cleft palate). Thes
At what age does OBSOLETE: Syndrome associated with Pierre Robin syndrome typically begin?
Typical onset of OBSOLETE: Syndrome associated with Pierre Robin syndrome is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for OBSOLETE: Syndrome associated with Pierre Robin syndrome?
3 patient support programs are currently tracked on UniteRare for OBSOLETE: Syndrome associated with Pierre Robin syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.