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Diseases » Dwarfism » Glossary

Glossary for Dwarfism

Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.
Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
Achondroplasia: A disorder characterized by problems with bone growth.
Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
Blue Diaper Syndrome: A rare metabolic disorder characterized by vision problems, bluish urine, fever and digestive anomalies.
Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
Bowing of legs, anterior, with dwarfism: A very rare syndrome characterized primarily by dwarfism and bowed lower leg bones. Only one or two reported cases of the condition.
Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
Brachydactyly - small stature - face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
Cantu Sanchez-Corona Fragoso syndrome: A rare syndrome characterized mainly by severe mental retardation, dwarfism and delayed puberty.
Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
Celiac Disease: Digestive intolerance to gluten in the diet.
Chondrodysplasia punctata: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The various forms of the disorders have varying severity with some causing death before or soon after birth. The range of symptoms also various between the various types.
Chondrodysplasia, Grebe type: A rare genetic disorder characterized by dwarfism and various limb deformities.
Chondrodystrophy: The abnormal development of cartilage which affects bone growth. The long bones of the body tend to be affected the most and results in short limbs.
Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
Chromosome 1, q42 11 q42 12 duplication: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes mainly short stature and dwarfism.
Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
Congenital disorder of glycosylation type 1F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
Congenital heart defects: Heart defects that a baby is born with.
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.
Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
Deafness, vitiligo, achalasia: A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo).
Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
Denys-Corbeel syndrome: A rare familial syndrome characterized by short stature, mental retardation and kidney problems.
Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
Dreyfus syndrome: A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities.
Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
Dwarfism - deafness - retinitis pigmentosa: A very rare disorder characterized by deafness, dwarfism and an eye disorder.
Dwarfism lethal type advanced bone age: A rare lethal condition characterized by the association of dwarfism and advanced bone age.
Dwarfism, short-limb - absent fibulas - very short digits: A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones.
Dysspondyloenchondromatosis: A rare disorder characterized by skeletal abnormalities and short stature.
Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
Ehlers-Danlos syndrome type VII: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations.
Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
Fetal alcohol syndrome: A pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.
Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
Hanhart syndrome type IV: A rare disorder where a genetic error of amino acid metabolism results in thickened skin on palms and soles, skin lumps, mental retardation and finger, toe, eye, hair and teeth abnormalities.
Hurler syndrome:
Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
Joint contractures - dwarfism - normal intelligence: A rare syndrome characterized mainly by short stature and joint contractures.
Kenny-Caffey Syndrome: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
Kenny-Caffey syndrome, Type 1: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
Lanzietri syndrome: A rare genetic disorder characterized by head and face abnormalities, dwarfism and absence of an lower leg bone (fibula).
Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
Leschke-Ullmann syndrome: A rare genetic disorder characterized by patches of skin pigmentation, physical and mental retardation, dwarfism, sexual dysfunction and muscle problems.
Low birth weight: When the weight of a new born baby is below average
Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
Lung conditions: Various conditions affecting the lungs or related airways.
Malabsorption: Failure to digest nutrients properly
Mauriac syndrome: A rare disorder characterized by diabetes, short stature and obesity.
Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
Microcephalic osteodysplastic primordial dwarfism, type 3: A very rare syndrome characterized mainly by dwarfism.
Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
Moynahan syndrome I: A rare disorder characterized mainly by multiple moles, underdeveloped genitals, short stature, mental deficiency and heart defect. The moles cover virtually the whole body.
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.
Mucopolysaccharidosis type 2 Hunter syndrome- severe 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.
Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
Norfloxacin - Teratogenic Agent: There is evidence to indicate that exposure to Norfloxacin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Oliver-McFarlane syndrome: A rare genetic condition characterized by mental retardation, dwarfism, retinal pigmentary degeneration and hairy eyelashes and eyebrows.
Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
Pfeiffer-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
Pituitary Cancer: Cancer of the pituitary gland.
Poor growth: Poor body growth or delayed physical development.
Precocious puberty: A rare condition where the hormones that trigger the development of secondary sex characteristics are released prematurely resulting in puberty at an early age. In severe cases puberty can occur before the age of 3.
Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
Rayner-Lampert-Rennert syndrome: A rare syndrome characterized mainly by ichthyosis (dry, scaly skin), mental retardation, dwarfism and kidney disease.
Rickets: A rare condition where a lack of Vitamin D results in bone disease as it is essential for the process of bone calcification.
Rolland-Desbuquois syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.
Rowley-Rosenberg syndrome: A rare disorder characterized by very short stature, cor-pulmonale (failure of the right side of the heart) and excess amino acids in the urine due to kidney dysfunction.
Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
Short limb dwarf mental retardation myopia: A rare syndrome characterized mainly by short stature, mental retardation and myopia.
Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
Short stature: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
Shwachman syndrome: A rare disorder where a pancreatic defect impairs digestive enzyme production and malfunction of the bone marrow produces blood abnormalities, particularly blood cells involved with fighting infection. These defects produce a range of symptoms as a result of malabsorption and poor ability to fight infections. Characterized by a lack of digestive enzymes and low immunity due to low leukocyte level.
Sponastrime dysplasia: A rare genetic disorder involving severe skeletal changes that results in short limbs, dwarfism and spinal and facial bone abnormalities.
Spondyloepimetaphyseal dysplasia, micromelic: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities.
Spondylometaphyseal dysplasia with dentinogenesis imperfecta: A rare skeletal disorder involving abnormal bone development. The condition is characterized by abnormal growth of long bones, loose joints and tooth enamel abnormalities. The shortness in the arms and legs occurs mainly in the middle bones such as the forearm and lower leg bones.
Spondylometaphyseal dysplasia, Algerian type: A severe, dominantly inherited skeletal disorder involving abnormal bone development. The condition is characterized by knock knees, curved spine, short stature and abnormal growth of long bones.
Spranger syndrome: A rare genetic disorder characterized by dwarfism and an unusually pleasant, happy face as well as other abnormalities involving the hands and feet. The condition involves localized accumulations of mucopolysaccharides in the liver, trachea and cardiovascular system cartilage.
Stimmler syndrome: A rare disorder characterized by dwarfism, diabetes, small head and high levels of alanine in the urine.
Thanatophoric dysplasia:
Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
Von Gierke Disease: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.
Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma
Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.
Wellesley Carmen French syndrome: A syndrome characterised visual difficulties and growth retardation
Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.