Pierre Robin sequence: Difference between revisions
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{{Infobox medical condition | |||
| name = Pierre Robin sequence | |||
| image = [[File:Pierre_Robin_Syndrome_1.jpg|250px]] | |||
| caption = Infant with Pierre Robin sequence showing [[micrognathia]] and [[glossoptosis]] | |||
| field = [[Medical genetics]] | |||
| synonyms = Pierre Robin syndrome, Pierre Robin complex | |||
| symptoms = [[Micrognathia]], [[glossoptosis]], [[cleft palate]] | |||
| complications = [[Airway obstruction]], [[feeding difficulties]], [[failure to thrive]] | |||
| onset = [[Congenital disorder|Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]], [[syndromic]] | |||
| risks = [[Family history]], [[genetic syndromes]] | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Treacher Collins syndrome]], [[Stickler syndrome]], [[22q11.2 deletion syndrome]] | |||
| treatment = [[Airway management]], [[feeding support]], [[surgical intervention]] | |||
| prognosis = Variable, depends on associated conditions | |||
| frequency = 1 in 8,500 to 14,000 live births | |||
}} | |||
[[File:Pierre_Robin_Syndrome_3.jpg|Pierre Robin sequence|left|thumb]] | |||
[[File:Pierre_Robin_Syndrome_4.jpg|Pierre Robin sequence|left|thumb]] | |||
'''Pierre Robin sequence''' (also known as '''Pierre Robin syndrome''' or '''Pierre Robin malformation''') is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that falls back in the throat and obstructs the airway (glossoptosis), and difficulty breathing. Some children with Pierre Robin sequence may also have a cleft palate. | '''Pierre Robin sequence''' (also known as '''Pierre Robin syndrome''' or '''Pierre Robin malformation''') is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that falls back in the throat and obstructs the airway (glossoptosis), and difficulty breathing. Some children with Pierre Robin sequence may also have a cleft palate. | ||
==Causes== | ==Causes== | ||
The exact cause of Pierre Robin sequence is unknown. It is believed to occur when the lower jaw does not grow properly during fetal development. This causes the tongue to be positioned at the back of the mouth, which can block the airway and cause difficulty breathing. In some cases, Pierre Robin sequence may be associated with genetic conditions or syndromes, such as [[Stickler syndrome]] or [[Velocardiofacial syndrome]]. | The exact cause of Pierre Robin sequence is unknown. It is believed to occur when the lower jaw does not grow properly during fetal development. This causes the tongue to be positioned at the back of the mouth, which can block the airway and cause difficulty breathing. In some cases, Pierre Robin sequence may be associated with genetic conditions or syndromes, such as [[Stickler syndrome]] or [[Velocardiofacial syndrome]]. | ||
==Symptoms== | ==Symptoms== | ||
The main symptoms of Pierre Robin sequence are a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. Other symptoms may include feeding difficulties, failure to thrive, and ear infections. Some children with Pierre Robin sequence may also have a cleft palate. | The main symptoms of Pierre Robin sequence are a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. Other symptoms may include feeding difficulties, failure to thrive, and ear infections. Some children with Pierre Robin sequence may also have a cleft palate. | ||
==Diagnosis== | ==Diagnosis== | ||
Pierre Robin sequence is usually diagnosed at birth based on the physical characteristics of the infant. Additional tests may be performed to confirm the diagnosis and to check for any associated conditions or complications. These may include a physical examination, imaging tests such as X-rays or CT scans, and genetic testing. | Pierre Robin sequence is usually diagnosed at birth based on the physical characteristics of the infant. Additional tests may be performed to confirm the diagnosis and to check for any associated conditions or complications. These may include a physical examination, imaging tests such as X-rays or CT scans, and genetic testing. | ||
==Treatment== | ==Treatment== | ||
The treatment for Pierre Robin sequence depends on the severity of the symptoms and the presence of any associated conditions or complications. Treatment options may include positioning the infant in a way that helps to keep the airway open, surgery to correct the jaw or cleft palate, and therapies to help with feeding and speech development. | The treatment for Pierre Robin sequence depends on the severity of the symptoms and the presence of any associated conditions or complications. Treatment options may include positioning the infant in a way that helps to keep the airway open, surgery to correct the jaw or cleft palate, and therapies to help with feeding and speech development. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for children with Pierre Robin sequence varies. With early diagnosis and appropriate treatment, most children can lead normal lives. However, some children may have ongoing difficulties with breathing, feeding, and speech. | The prognosis for children with Pierre Robin sequence varies. With early diagnosis and appropriate treatment, most children can lead normal lives. However, some children may have ongoing difficulties with breathing, feeding, and speech. | ||
==See also== | ==See also== | ||
* [[Micrognathia]] | * [[Micrognathia]] | ||
| Line 22: | Line 37: | ||
* [[Stickler syndrome]] | * [[Stickler syndrome]] | ||
* [[Velocardiofacial syndrome]] | * [[Velocardiofacial syndrome]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:03, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Pierre Robin sequence | |
|---|---|
| |
| Synonyms | Pierre Robin syndrome, Pierre Robin complex |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Micrognathia, glossoptosis, cleft palate |
| Complications | Airway obstruction, feeding difficulties, failure to thrive |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation, syndromic |
| Risks | Family history, genetic syndromes |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Treacher Collins syndrome, Stickler syndrome, 22q11.2 deletion syndrome |
| Prevention | N/A |
| Treatment | Airway management, feeding support, surgical intervention |
| Medication | N/A |
| Prognosis | Variable, depends on associated conditions |
| Frequency | 1 in 8,500 to 14,000 live births |
| Deaths | N/A |
Pierre Robin sequence (also known as Pierre Robin syndrome or Pierre Robin malformation) is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that falls back in the throat and obstructs the airway (glossoptosis), and difficulty breathing. Some children with Pierre Robin sequence may also have a cleft palate.
Causes[edit]
The exact cause of Pierre Robin sequence is unknown. It is believed to occur when the lower jaw does not grow properly during fetal development. This causes the tongue to be positioned at the back of the mouth, which can block the airway and cause difficulty breathing. In some cases, Pierre Robin sequence may be associated with genetic conditions or syndromes, such as Stickler syndrome or Velocardiofacial syndrome.
Symptoms[edit]
The main symptoms of Pierre Robin sequence are a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. Other symptoms may include feeding difficulties, failure to thrive, and ear infections. Some children with Pierre Robin sequence may also have a cleft palate.
Diagnosis[edit]
Pierre Robin sequence is usually diagnosed at birth based on the physical characteristics of the infant. Additional tests may be performed to confirm the diagnosis and to check for any associated conditions or complications. These may include a physical examination, imaging tests such as X-rays or CT scans, and genetic testing.
Treatment[edit]
The treatment for Pierre Robin sequence depends on the severity of the symptoms and the presence of any associated conditions or complications. Treatment options may include positioning the infant in a way that helps to keep the airway open, surgery to correct the jaw or cleft palate, and therapies to help with feeding and speech development.
Prognosis[edit]
The prognosis for children with Pierre Robin sequence varies. With early diagnosis and appropriate treatment, most children can lead normal lives. However, some children may have ongoing difficulties with breathing, feeding, and speech.
