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Diseases » Macroglossia » Glossary
 

Glossary for Macroglossia

  • Acromegaly: A hormonal disorder involving excess growth hormone production by the pituitary gland.
  • Amyloidosis: A rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
  • Amyloidosis AL: A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the bone marrow. In some cases, the excess growth of abnormal plasma cells can result in a cancerous condition called myeloma resulting in bone pain and infections. A patient with myeloma may develop amyloidosis but it is rare for a patient with AL amyloidosis to go on to develop myeloma.
  • Angioedema: Severe and dangerous form of hives with swelling
  • Athyrotic hypothyroidism sequence: A rare congenital disorder characterized by a thyroid gland defect.
  • Beckwith-Wiedemann Syndrome: A rare genetic disorder characterized by macroglossia, omphalocele, macrosomia and ear creases.
  • Breathing-related sleep disorder: Breathing-related sleep disorder refers to a spectrum of breathing anomalies ranging from chronic or habitual snoring to upper airway resistance syndrome (UARS) to frank obstructive sleep apnea (OSA) or, in some cases, obesity hypoventilation syndrome (OHS).
  • Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Congenital hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
  • Cretinism athyreotic: A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration.
  • Cystic Hygroma: A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.
  • Dental symptoms: Symptoms affecting teeth or mouth area.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
  • Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
  • Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
  • Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
  • Head Conditions: Conditions that affect the head
  • Hemangioma: A condition which is characterized by a benign tumour cause by newly formed blood vessels
  • Hurler syndrome:
  • Hypersecretion of growth hormone: increased production of growth hormone from the pituitary gland
  • Hypothyroidism: Too little thyroid hormone production.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • Immunoglobulinic amyloidosis: A disease characterized by the abnormal deposit of amyloid in various parts of the body, especially organs such as the kidneys, heart, liver, gastrointestinal tract and peripheral nerves. It occurs when plasma cells in the bone marrow produce too much of a protein portion of an antibody called the light chain. The exact symptoms are determined by the extent of the organ involvement.
  • Kocher-Debre-Semelaigne syndrome: A rare condition characterized by pseudohypertrophy of muscles that occurs in patients with hypothyroidism.
  • Large tongue: Large tongue refers to a tongue that is unusually big.
  • Lubarsch-Pick syndrome: A rare disorder involving abnormal amyloid deposits in various parts of the body - heart, skin, muscles, stomach and intestines.
  • Lymphoma: Cancer involving lymph nodes and the immune system.
  • Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
  • Mental retardation, X-linked with brachydactyly and macroglossia: A syndromic form of mental retardation which also involves short digits and an enlarged tongue. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mouth conditions: Any condition that affects the mouth
  • Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Mucopolysaccharidosis II: Disorder of mucopolysaccharide metabolism in juveniles.
  • Mucopolysaccharidosis VI: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Mucopolysaccharidosis type 2 Hunter syndrome- mild form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
  • Multiple Myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Pompe disease: A rare inherited biochemical disorder where insufficient maltase acid results in accumulation of glycogen. The condition is often fatal in infants, causes mental retardation, hypotonia and a short life in children and progressive muscle weakness in adults. Also called glycogen storage disease type II.
  • Poor feeding: Poor feeding (mostly in infants)
  • Simpson Dysmorphia Syndrome:
  • Simpson-Golabi-Behmel syndrome: A rare genetic disorder characterized by accelerated growth and other defects.
  • Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
  • Speech symptoms: Problems with speech or voice.
  • Tongue Cancer: The majority of tongue cancers are squamous cell carcinomas. These arise from the lining that covers the muscles of the tongue
  • Triploid syndrome: A complete extra set of chromosomes.
  • Type II Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
  • Wiedemann Opitz syndrome: A syndrome characterised by a number of congenital symptoms
  • Wiedemann-Beckwith syndrome: A rare genetic disorder characterized by an enlarged tongue, omphalocele, excessive birth weight and ear creases.
  • X-linked mental retardation craniofacial abnormal microcepahly club: An x-linked condition that is characterised by mental retardation and dysmorphic facies
  • Young Simpson syndrome: A condition that is characterised by mainly mental retardation and physical signs of hypothyroidism
  • Zadik Barak Levin syndrome: A condition that affects the endocrine system as well as some facial characteristics

 

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