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What causes Pierre Robin syndrome?

What causes Pierre Robin syndrome?

In about 20 to 40 percent of cases, the condition occurs alone. The exact causes of Pierre Robin syndrome are unknown. Changes ( mutations ) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence.

How is Pierre Robin syndrome treated?

Treatment of PRS is multifaceted and individualized, with surgery being performed only to solve the functional problems that a patient may have. Surgical treatments may be indicated for PRS patients with more severe clinical conditions, often those associated with airway impairment.

Is Pierre Robin syndrome hereditary?

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.

What is the difference between Pierre Robin syndrome and sequence?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

Can Pierre Robin syndrome be detected before birth?

Prenatal suspicion of PRS is essential for preparing the delivery team for a possible airway emergency. Because PRS is based on clinical findings, it cannot be definitively diagnosed until delivery and demonstration of airway compromise. Ultrasonography is currently the most described modality to screen for PRS.

Can you test for Pierre Robin Syndrome?

Pierre Robin sequence can be diagnosed with a physical exam at birth. If your child has Pierre Robin sequence, you can expect treatment to come in stages. Since the condition affects a variety of functions, including hearing, breathing and feeding, several specialists will be involved in your child’s care.

What do you need to know about Pierre Robin syndrome?

Pierre Robin syndrome is a congenital condition recently linked to genetic anomalies at chromosomes 2, 11 or 17. Often called Pierre Robin sequence, the disease is a chain of developmental malformations, each leading to the next. The condition is characterized by a smaller-than-normal lower jaw,…

What are the characteristics of Snyder Robinson syndrome?

Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.

What happens to cochlear hair cells in Pierre Robin syndrome?

Loss of cochlear hair cells was seen in children who had antemortem hypoxia. Nasal deformities are infrequent and consist mostly of anomalies of the nasal root. Dental and philtral malformations occur in one third of cases. Laryngomalacia occurs in approximately 10-15% of patients with Pierre Robin sequence.

When do babies with Pierre Robin syndrome need a tracheostomy?

If neither of these procedures is successful or your child has disease below the base of the tongue, she may need a tracheostomy. Babies with Pierre Robin syndrome are often treated in conjunction with the Neonatal Airway Program at CHOP. As your child grows, close monitoring of the airway, feeding, growth and development are important.