Macroglossia is the medical term for unusual enlargement (hypertrophy) of the tongue

Tongue

The tongue is a muscular hydrostat on the floors of the mouths of most vertebrates which manipulates food for mastication. It is the primary organ of taste , as much of the upper surface of the tongue is covered in papillae and taste buds. It is sensitive and kept moist by saliva, and is richly...

. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.

Amyloid Disorders

Amyloidosis is an accumulation of insoluble proteins in tissues that impedes normal function.

• 1. Primary amyloidosis
• 2. Myeloma associated amyloidosis
• 3. Lubarsch Pick syndrome
• 4. Immunoglobulinemic amyloidosis

Hypothyroid Macroglossia

Macroglossia is also a clinical feature in Hypothyroid disorders which include

• 1. congenital hypothyroidism
  Congenital hypothyroidism
  Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
  
  ,.
• 2. Young Simpson syndrome
  Young Simpson syndrome
  Young Simpson syndrome , is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation....
  
  ,
• 3. Zadik Barak Levin syndrome
  Zadik Barak Levin syndrome
  Zadik Barak Levin Syndrome is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia...
  
  ,
• 4. Athyreotic cretinism
• 5. Kocher-Debre-Semelaigne syndrome
  Kocher-Debre-Semelaigne syndrome
  The Kocher-Debré-Semelaigne syndrome is a of hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism...
  
  

Overgrowth Disorders

• 1. Beckwith-Wiedemann syndrome
  Beckwith-Wiedemann syndrome
  Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
  
  
• 2. Simpson-Golabi-Behmel syndrome
  Simpson-Golabi-Behmel syndrome
  Simpson–Golabi–Behmel syndrome , also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome or X-linked dysplasia gigantism syndrome , is a rare inherited congenital disorder with widely variable expression, causing craniofacial and other abnormalities.It...
  
  
• 3. Acromegaly
  Acromegaly
  Acromegaly is a syndrome that results when the anterior pituitary gland produces excess growth hormone after epiphyseal plate closure at puberty...
  
  

Chromosomal disorders

1. Triploid Syndrome

Triploid Syndrome

Triploid Syndrome is an extremely rare chromosomal disorder. Individuals with triploid syndrome have three of every chromosome for a total of sixty-nine rather than the normal forty-six chromosomes....

2. Chromosome 4,trisomy 4p

3. Trisomy 21 (Downs Syndrome)

Other Miscellaneous

1. Mucopolysaccharidosis

Mucopolysaccharidosis

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...

2. MANNOSIDOSIS, ALPHA B, LYSOSOMAL

3. Glycogen storage disease

Glycogen storage disease

Glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes...

 type 2, or Pompe's disease.

4. Fucosidosis

Fucosidosis

Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...

Apparent macroglossia can also occur in Down syndrome

Down syndrome

Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...

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External links

• Grand Rounds Site