Macroglossia: Definition, Symptoms, Causes, Related Disorders, Diagnosis and Treatment

It is the abnormal enlargement of the tongue. In rare cases, macroglossia occurs as an isolated finding at birth (congenital).

In many cases, macroglossia may occur secondary to a primary disorder that may be congenital (e.g., Down syndrome or Beckwith-Wiedemann syndrome) or acquired (e.g., trauma or malignancy).

Symptoms and physical findings associated with macroglossia may include noisy and sharp breathing (stridor), snoring, and feeding difficulties.

In some cases, the tongue may protrude from the mouth. When inherited, macroglossia is transmitted as an autosomal dominant genetic trait.

Signs and symptoms

Macroglossia is a disorder characterized by a tongue that is large in proportion to other structures in the mouth. In the congenital type of disorder, the protrusion of the language from the mouth can interfere with the baby’s feeding. Later, speech may be affected.

The large size of the tongue can also cause abnormal development of the jaw and teeth, which produces misaligned or protruding teeth. Ulceration and agonizing tissue at the tip of the language may be other symptoms of the disorder.

Causes

Macroglossia can be found in people affected by certain hereditary or congenital disorders, such as Beckwith-Wiedemann syndrome, Acromegaly, primary amyloidosis , congenital hypothyroidism, Down syndrome, Apert syndrome others.

 

Macroglossia can also signify certain acquired disorders, including malignant tumors, metabolic/endocrine disorders, and inflammatory or infectious diseases.

In rare cases, macroglossia is a hereditary disorder not associated with any other cause, whether congenital or acquired. The disease is genetically transmitted as an autosomal dominant trait in such cases.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to onset the disease.

The abnormal gene can be inherited from either parent, or it can result from a new mutation (gene change) in the affected individual. The risk of transmitting the abnormal gene of the affected parent to offspring is 50% for each pregnancy, regardless of the sex of the resulting child.

Affected populations

Isolated autosomal dominant macroglossia is rare, with approximately 50 cases reported in the medical literature.

The prevalence in other instances depends on the underlying disorder for which macroglossia is secondary. For example, macroglossia occurs in most cases of Beckwith-Wiedemann syndrome, and the majority of that syndrome is estimated at 1 in 17,000 births.

Related disorders

Macroglossia can be an early sign of Acromegaly.

In people who have lost their teeth (edentulous), an increase in the tongue’s size can occur in the absence of dentures.

In Moeller’s Glossitis: the tongue is slippery, lustrous, or enameled. The injuries can be very distressing and persistent.

Medium rhomboid glossitis: it is a lesion of tongue development. This lesion consists of a nodular, reddish, and smooth area in the posterior part of the middle third of the tongue.

Velvety black tongue: characterized by yellowish, brown, blackish, or bluish tongue discoloration. There is also an excessive growth of filamentous elevations (filiform papillae) in front of the taste buds.

The geographical language is an inflammation of the tongue that can go into remission and reappear again. This form of inflammation is characterized by smooth areas on the tongue that may feel a bit of pain and sometimes itch.

Severe acute glossitis: can be caused by local infection, burns, or lesions on the tongue. This glossitis can develop rapidly, producing a marked sensitivity or pain with swelling. In the most severe cases, the node may be enough to cause the tongue to block the air passages.

Diagnosis

Babies born with isolated autosomal dominant macroglossia present with the apparent sign at birth. Family history and a physical examination can confirm the diagnosis.

Treatment

The tongue can be reduced in size by surgery with the remodeling of the mouth and orthodontic procedures.

Research therapies:

Information about current clinical trials is posted online at www.clinicaltrials.gov. All studies that receive funds from the US government. UU And some with the backing of private industry are published on this government website.