macroglossia

Macroglossia has been reported to have a positive family history in 6% of cases.

Macroglossia is the medical term for an unusually large tongue.

One of the most well known symptoms is macroglossia.

Others have suggested there is no objective definition of what constitutes macroglossia.

In severe cases, macroglossia can cause respiratory, feeding, and speech difficulties.

Macroglossia may be caused by a wide variety of congenital and acquired conditions.

Macroglossia is uncommon, and usually occurs in children.

In rare cases, macroglossia occurs as an isolated finding that is present at birth (congenital).

Apparent macroglossia can also occur in Down syndrome.

When inherited, macroglossia is transmitted as an autosomal dominant genetic trait.

Isolated macroglossia has no determinable cause.

However, some children with BWS do have speech problems that could be related to macroglossia or hearing loss.

Children with BWS and significant macroglossia should be evaluated by a craniofacial team.

The Myer classification subdivides macroglossia into generalized or localized.

Macroglossia is usually clinically diagnosed.

Lubarsch-Pick syndrome: A combination of systematized amyloidosis with macroglossia.

Macroglossia, an abnormally large tongue, can be associated with ulceration if the tongue protrudes constantly from the mouth.

This can be a cause of macroglossia if amyloid is deposited in the tissues of the tongue, which gives it a nodular appearance.

The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith-Wiedemann syndrome.

Also, some premature newborns with BWS do not have macroglossia until closer to their anticipated delivery date.

Symptoms and physical findings associated with macroglossia may include noisy, high-pitched breathing (stridor), snoring, and/or feeding difficulties.

Surgery for macroglossia involves removing a small part of the tongue so that it fits within the mouth to allow for proper jaw and tooth development.

Acromegaly and Gigantism (Image of a patient with macroglossia - enlargement of the tongue)

Facial features include macroglossia, open mouth, wide open eyes, nasal flaring (due to respiratory distress), and poor facial muscle tone.

Infants with BWS and macroglossia typically cannot fully close their mouth in front of their large tongue, causing it to protrude out.