What does glossoptosis mean?

What does glossoptosis mean?

Definition. Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. [ from HPO]

What is Pierre Robin syndrome caused from?

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.

What was Robin’s specific genetic mutation?

A triad of micrognathia, glossoptosis, and obstruction of the upper airways was first reported by the Parisian stomatologist Pierre Robin in 1923. The frequent association of cleft palate with the abovementioned triad was reported in 1934 [Robin, 1923, 1934].

What causes Glossoptosis?

It is concluded that regardless of a specific cause, any airway obstruction that results in a decreased inspiratory pressure overcoming the airway maintaining genioglossus action causes a glossoptosis-apnea syndrome.

What is Microglossia?

MedGen UID: 10029 •Concept ID: C0025988 • Congenital Abnormality. Synonyms: Abnormally small tongue; Decreased size of tongue; Hypoglossia; Hypoplasia of the tongue; Hypoplastic tongue; Lingual hypoplasia; Rudimentary tongue; Small tongue; Underdevelopment of the tongue.

Does cleft palate cause breathing problems?

A child with a cleft palate can sometimes have other health problems, such as: trouble breathing. frequent ear infections. trouble feeding.

What heart problems are associated with cleft palate?

Cardiac anomalies are one of the most common congenital disorders associated in cleft lip and palate patientsIt includes Cyanotic and acyanotic cardiac diseases likel fallot’s tetralogy, transposition of greater vessels, atresia of tricuspid, total anomalous pulmonary venous return (TAPVR), truncus arteriosus.

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 PRS syndrome?

Pierre Robin (Pee-air Roe-bahn) sequence, also called Pierre Robin syndrome, or PRS, is a condition where babies are born with a small lower jaw, have difficulties breathing (airway obstruction) and often (but not always) have a cleft of the palate (an opening in the roof of the mouth).

What does Macrostomia mean?

Macrostomia is a rare medical condition, defined as an enlargement of the mouth at the oral commissure. The incidence varies between 1 in 60 000 to 1 in 300 000 live births. Macrostomia is a form of a facial cleft.

When to suspect retrognathia and glossoptosis in Pierre Robin?

When retrognathia and glossoptosis are mild or lacking, the diagnosis of Pierre Robin cannot be suspected. In practice, there is a double challenge: on the one hand dealing with sucking/swallowing disorders and on the other reaching the proper diagnosis.

What does glossoptosis do to the airway?

Glossoptosis makes displacement of the tongue to the left difficult, so that the airway is difficult to visualize. Abnormal posterior motion of tongue during sleep leading to obstructive sleep apnea (OSA) Typically associated with underlying hypotonia, macroglossia, &/or micrognathia

How is glossoptosis related to deglutition in children?

Glossoptosis is the cause of varying degrees of respiratory and deglutition dysfunction, ranging from mildly affected children who require no support to severely affected ones who present with disabling airway obstruction and are unable to feed.

What are the side effects of glossoptosis 7?

Swallowing disorders are frequent in patients with glossoptosis 7 and are characterized by low oral intake, feeding times greater than 30 min, fatigue, and coughing, gagging, and vomiting with intake.

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