Macroglossia is most often caused by an increase in the amount of tissue on the tongue, rather than by a growth, such as a tumor. This condition can be seen in certain inherited or congenital (existing at birth) disorders, including: Acromegaly (buildup of too much growth hormone in the body)

What are the causes of macroglossia?

Macroglossia is most often caused by an increase in the amount of tissue on the tongue, rather than by a growth, such as a tumor. This condition can be seen in certain inherited or congenital (existing at birth) disorders, including: Acromegaly (buildup of too much growth hormone in the body)

What is associated with macroglossia?

Symptoms and physical findings associated with macroglossia may include noisy, high-pitched breathing (stridor), snoring, and/or feeding difficulties. In some cases, the tongue may protrude from the mouth. When inherited, macroglossia is transmitted as an autosomal dominant genetic trait.

What is congenital macroglossia?

Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia.

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood.

Is macroglossia curable?

Treatment. Medical therapy for macroglossia is useful when the underlying cause is identified, and the cause is medically treatable – such as hypothyroidism, infection, or amyloidosis. No medical treatments have been proven useful when the cause is unclear.

How is macroglossia diagnosed?

Macroglossia is diagnosed clinically [1,2]. In utero, an ultrasound scan can detect macroglossia [6]. X-rays can be used to determine the size of the tongue when primarily used to measure the size of the head. Diagnosis of any underlying condition is also important.

How is macroglossia clinically diagnosed?

Is macroglossia serious?

Potential risks of having a big tongue If left untreated, macroglossia can cause complications. Macroglossia that’s present at birth can affect physical development. This includes issues like: misaligned teeth spacing.

Can macroglossia be cured?

No medical treatments have been proven useful when the cause is unclear. Surgery to reduce the size of the tongue may be an option for people with macroglossia. Most studies have shown that surgical procedures for macroglossia lead to improved physical appearance, speech, chewing and feeding.

Does macroglossia go away?

Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy).

How common is macroglossia?

Macroglossia, sometimes called giant tongue or enlarged tongue, is a rare condition that typically affects more children than adults. Most people have macroglossia because they have other conditions, such as Beckwith-Wiedemann syndrome or Down syndrome.

Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia.

How is macroglossia evaluated?

The evaluation of a patient with macroglossia should begin with a thorough history and physical examination, which may allow the recognition of a syndrome of which the enlarged tongue is one component. Assessment of the tongue should include examination for masses and changes in colour and consistency.

What is Macroglossia in trisomy 21?

Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650). See: Condition Record Complete trisomy 21 syndrome MedGen UID: 4385 •Concept ID: C0013080 Disease or Syndrome

What is the pathophysiology of pseudomacroglossia?

Pseudomacroglossia is usually self limiting and regresses with age. Apparent enlargement of the tongue secondary to micrognathia is seen in Down’s syndrome and the PierreRobin syndrome 2 and occasionally in conditions with underlying neuromuscular dysfunction such as cerebral palsy. 4.