Overview
Pierre Robin syndrome (also called Pierre Robin sequence) associated with miscellaneous anomalies is a term that was previously used to describe cases where the classic features of Pierre Robin sequence occur alongside other birth defects or developmental differences that don't fit neatly into a single recognized syndrome. Pierre Robin sequence itself involves three main features present at birth: 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). When these features appear together with additional anomalies — such as heart defects, limb differences, eye problems, or developmental delays — doctors historically grouped them under this label. It is important to note that this specific Orphanet entry (138066) is now marked as OBSOLETE. This means the medical community has moved away from using this classification. Many cases previously grouped here have since been reclassified into more specific genetic syndromes as our understanding of the underlying causes has improved. Examples of better-defined conditions include Stickler syndrome, velocardiofacial syndrome (22q11.2 deletion syndrome), and Treacher Collins syndrome, among others. Because this is an obsolete classification, patients or families who were given this diagnosis in the past should work with a clinical geneticist to determine whether a more specific and current diagnosis can be made. Modern genetic testing can often identify the precise cause, which is important for guiding treatment, understanding the expected course of the condition, and providing accurate genetic counseling for the family.
Key symptoms:
Very small or receding lower jawTongue falling back into the throat causing breathing problemsOpening or gap in the roof of the mouth (cleft palate)Difficulty feeding as a newbornNoisy breathing or snoringEpisodes of breathing obstruction, especially during sleepHeart defectsLimb or hand differencesEye or vision problemsHearing lossDevelopmental delaysGrowth problemsJoint or skeletal abnormalities
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies.
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
Travel Grants
No travel grants are currently matched to OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Can genetic testing identify a more specific diagnosis for my child's condition?,How severe is my child's airway obstruction, and what is the best way to manage it?,What feeding approach do you recommend, and should we see a feeding specialist?,When should cleft palate repair surgery be planned?,What other organs or systems should be checked for associated problems?,What developmental milestones should I watch for, and when should I be concerned?,Are there any implications for future pregnancies in our family?
Common questions about OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies
What is OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies?
Pierre Robin syndrome (also called Pierre Robin sequence) associated with miscellaneous anomalies is a term that was previously used to describe cases where the classic features of Pierre Robin sequence occur alongside other birth defects or developmental differences that don't fit neatly into a single recognized syndrome. Pierre Robin sequence itself involves three main features present at birth: 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). When these features appear together with addit
At what age does OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies typically begin?
Typical onset of OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies is neonatal. Age of onset can vary across affected individuals.