Macroglossia

Macroglossia
ICD-10	Q38.2
ICD-9	529.8
OMIM	153630
DiseasesDB	7689
MeSH	D008260

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Macroglossia is the medical term for unusual enlargement (hypertrophy) of the tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.

Causes

Life Threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.

Common Causes

• Acromegaly
• Amyloidosis
• Beckwith-Wiedemann syndrome
• Congenital hypothyroidism
• Down syndrome
• Hurler syndrome
• I-cell disease

Causes by Organ System

Cardiovascular	Cardiac amyloidosis
Chemical / poisoning	No underlying causes
Dermatologic	Hemangioma
Drug Side Effect	Angioedema
Ear Nose Throat	Acromegaly
Endocrine	Acromegaly, congenital hypothyroidism, growth hormone secreting pituitary adenoma, hypothyroidism
Environmental	No underlying causes
Gastroenterologic	No underlying causes
Genetic	Chromosome 12p tetrasomy syndrome, chromosome 9q deletion syndrome, congenital micrognathia, down syndrome, gM1 gangliosidoses, gM3 gangliosidoses, glycogen storage disease, Hunter syndrome, Hurler syndrome, Limb-girdle muscular dystrophy, lymphoma, monoclonal gammopathy of undetermined significance, I-cell disease, omphalocele, Smith-Lemli-Opitz syndrome, Pompe disease, Potocki-Lupski syndrome, Simpson-Golabi-Behmel syndrome, tongue cancer, Beckwith-Wiedemann syndrome
Hematologic	Multiple myeloma, monoclonal gammopathy of undetermined significance, lymphoma, down syndrome
Iatrogenic	No underlying causes
Infectious Disease	No underlying causes
Musculoskeletal / Ortho	Acromegaly, Beckwith-Wiedemann syndrome, congenital hypothyroidism, cystic hygroma, Limb-girdle muscular dystrophy, multiple myeloma, sleep apnea, Simpson-Golabi-Behmel syndrome, Beckwith-Wiedemann syndrome, tongue cancer
Neurologic	Neurofibromatosis
Nutritional / Metabolic	Cardiac amyloidosis, amyloidosis, gM1 gangliosidoses, gM3 gangliosidoses, Hunter syndrome, immunoglobulin light chain amyloidosis, I-cell disease, Pompe disease, Potocki-Lupski syndrome
Obstetric/Gynecologic	No underlying causes
Oncologic	Hemangioma
Ophthalmologic
Overdose / Toxicity	No underlying causes
Psychiatric
Pulmonary	No underlying causes
Renal / Electrolyte
Rheum / Immune / Allergy	Angioedema
Sexual	No underlying causes
Trauma	No underlying causes
Urologic	No underlying causes
Miscellaneous	Sleep apnea

Causes in Alphabetical Order

• 17q21.31 duplication syndrome
• 22q11.2 duplication syndrome
• 5q35 microduplication syndrome
• Acromegaly

Alpha-mannosidase deficiency Amyloid cardiomyopathy

• Amyloidosis
• Angioedema

Beckwith-Wiedemann syndrome

Chromosome 12p tetrasomy syndrome

Chromosome 9q deletion syndrome

• Congenital hypothyroidism
• Congenital micrognathia
• Cystic hygroma

Dialysis-related amyloidosis

• Down syndrome
• Gangliosidosis GM1, type 1
• Gangliosidosis GM3

Gastrointestinal amyloidosis

• Glycogen storage disease
• Growth hormone secreting pituitary adenoma

• Hemangioma

• Hurler syndrome

• Hypothyroidism

• Congenital hypothyroidism

• I-cell disease

Immunoglobulin light chain amyloidosis

• Limb-girdle muscular dystrophy

• Lymphangioma

• Lymphoma

• Monoclonal gammopathy of undetermined significance

• Mucolipidosis II alpha/beta

• Mucopolysaccharidosis VII

• Multiple myeloma

• Neurofibromatosis

• Sleep apnea

• Omphalocele

• Opitz-Frias syndrome

• Pompe disease

• Potocki-Lupski syndrome

• Schinzel-Giedion midface-retraction syndrome

• Simpson-Golabi-Behmel syndrome

• Tongue cancer

Wiedemann-Beckwith syndrome