Is Pierre Robin syndrome a disability?
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl.
Can Pierre Robin syndrome be detected before birth?
Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction.
What is the difference between Pierre Robin syndrome and sequence?
Pierre Robin syndrome (PRS) — also called Pierre Robin sequence — is a condition in which your baby has a small jaw (micrognathia), a tongue that falls back toward the throat (glossoptosis) and upper airway obstruction. Infants with the condition also commonly have an opening in the roof of the mouth (cleft palate).
What causes Pierre Robin sequence?
What is the cause of Pierre Robin syndrome? The exact cause of Pierre Robin syndrome is unknown. However, experts do know the sequence of events in the uterus (womb) that leads to the condition. It begins with an underdeveloped jaw, which causes the tongue to be displaced.
Who discovered Pierre Robin sequence?
Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome.
Is Pierre Robin inherited?
Inheritance. Isolated Pierre Robin sequence is usually not inherited. It typically results from new (de novo) genetic changes and occurs in people with no history of the disorder in their family.
Why is Pierre Robin syndrome classified as a sequence?
The small or displaced lower jaw also causes the tongue to be positioned at the back of the mouth causing breathing difficulties when the child is born. This “sequence of events” is the reason why the condition has been classified as a sequence.. The exact causes of Pierre Robin sequence are unknown.
Can Pierre Pierre Robin sequence cause breathing problems?
Pierre Robin sequence (PRS) For some babies, this can result in airway obstruction (blocked airways), which affects their breathing. These breathing problems start either from birth or shortly after birth. Most babies with PRS also have feeding difficulties and problems gaining weight.
How is Pierre Robin syndrome treated?
Changes (mutations) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence. Treatment is focused on the specific needs of each patient, but may include surgery to assist with breathing and feeding modifications to prevent choking.
What is the role of SOX9 in Pierre Robin syndrome?
The SOX9 protein regulates the activity of other genes, especially those involved in the development of the skeleton, including the jaw.  In about 37% of cases, Pierre Robin occurs as part of a syndrome with multiple malformations.