Pierre robin syndrome

Pierre Robin syndrome (also known as Pierre Robin sequence, Pierre Robin malformation, Robin complex, and Robin sequence) is a congenital condition of facial abnormalities in humans. It is characterized by a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an obstruction of the airways. Most children with this syndrome also have a cleft palate. This syndrome is named after the French stomatologist Pierre Robin who first described it in 1923.

Signs and Symptoms[edit | edit source]

The main symptoms of Pierre Robin syndrome are a small lower jaw, a tongue that falls back in the throat, and difficulty breathing. The small lower jaw (micrognathia) often causes the tongue to be displaced back towards the throat (glossoptosis). This displacement can cause breathing problems, which can be severe. In many cases, there is also a U-shaped cleft palate, which can cause feeding difficulties.

Causes[edit | edit source]

Pierre Robin syndrome is believed to occur as a result of a series of events during embryonic development. The exact cause is unknown, but it is thought to be multifactorial, involving both genetic and environmental factors. Some cases have been associated with mutations in the SOX9 gene.

Diagnosis[edit | edit source]

Diagnosis of Pierre Robin syndrome is based on the physical features observed in the infant at birth. These include micrognathia, glossoptosis, and often a cleft palate. Genetic testing may be performed to identify any associated genetic conditions.

Treatment[edit | edit source]

Treatment for Pierre Robin syndrome is focused on managing the symptoms and generally involves a multidisciplinary team of healthcare providers. Breathing difficulties may be managed with positioning or surgery. Feeding difficulties can often be managed with special feeding techniques or devices. In some cases, surgery may be required to correct the cleft palate.

Prognosis[edit | edit source]

The prognosis for individuals with Pierre Robin syndrome varies depending on the severity of symptoms. With appropriate treatment and management, most individuals with Pierre Robin syndrome can lead healthy lives.

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v t e Genetic disorders
General Concepts	Genetics Mutation Chromosome Genetic variation Heritability
Types and Disorders	Autosomal dominant Huntington's disease Marfan syndrome Autosomal recessive Cystic fibrosis Sickle cell disease X-linked dominant Rett syndrome X-linked recessive Hemophilia Color blindness Mitochondrial Leber's hereditary optic neuropathy
Diagnosis and Treatment	Genetic testing Gene therapy Personalized medicine Prenatal diagnosis
Related Topics	Evolutionary biology Medical genetics Pharmacogenomics Population genetics
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v t e Congenital disorders
General	Birth defect Congenital anomaly Genetic disorder Inborn errors of metabolism
By system	Congenital heart defect Atrial septal defect Ventricular septal defect Tetralogy of Fallot Congenital diaphragmatic hernia Neural tube defect Spina bifida Anencephaly Cleft lip and palate Club foot Congenital hip dislocation
Chromosomal	Down syndrome Turner syndrome Klinefelter syndrome Trisomy 18 Trisomy 13
See also	Pediatric surgery Neonatology Prenatal diagnosis Genetic counseling
This congenital disorder related article is a stub.