views updated May 29 2018



Dwarfism is a term applied broadly to a number of conditions resulting in unusually short stature.


While dwarfism is sometimes used to describe achondroplasia, a condition characterized by short stature and disproportionately short arms and legs, it is also used more broadly to refer to a variety of conditions resulting in unusually short stature in both children and adults. In some cases physical development may be disproportionate, as in achondroplasia, but in others the parts of the body develop proportionately. Short stature may be unaccompanied by other symptoms, or it may occur together with other problems, both physical and mental.

There are many conditions and diseases that can cause short stature. Some of these conditions involve a primary bone disorder, namely that the bones do not grow and develop normally. These conditions are called skeletal dysplasia. Over 500 specific skeletal dysplasias have been identified. Of these, Achondroplasia is the most common, affecting about 80 percent of all little people. An individual with achondroplasia has disproportionate short stature.

The four most common causes of dwarfism in children are achondroplasia, Turner syndrome , inadequate pituitary function (pituitary dwarfism ), and lack of emotional or physical nurturance. Achondroplasia (short-limbed dwarfism) is a genetic disorder that impairs embryonic development, resulting in abnormalities in bone growth and cartilage development. It is one of a class of illnesses called chondrodystrophies, all of which involve cartilage abnormalities and result in short stature. In achondroplasia, the long bones fail to develop normally, making the arms and legs disproportionately short and stubby (and sometimes curved). Overly long fibulae (one of two bones in the lower leg) cause the bowlegs that are characteristic of the condition. In addition, the head is disproportionately large and the bridge of the nose is depressed. Persons with achondroplasia are 35 feet (91152 cm) tall and of normal intelligence . Their reproductive development is normal, and they have greater than normal muscular strength. The condition occurs in one out of every 10,000 births, and its prevalence increases with the age of the parents, especially the father. Many infants with the condition are stillborn.

Turner syndrome is a chromosomal abnormality occurring only in females in whom one of the X chromosomes is missing or defective. Girls with Turner syndrome are usually between 4.5 and 5 feet (137152 cm) tall. Their ovaries are undeveloped, and they do not undergo puberty . Besides short stature, other physical characteristics include a stocky build and a webbed neck.

Pituitary dwarfism is a result of growth hormone deficiency. The deficiency may be genetic or the result of a severe brain injury. When untreated, skeletal growth is extremely slow, and puberty may or may not occur. Development can be normalized with the regular administration of synthetic hormones.

Parental neglect and malnourishment can cause a child to fail to grow properly. Infants in particular need physical comfort as well as caloric nourishment in order to thrive.


Adult males under 5 feet (1.5 m) tall and females under 4 feet 8 inches (1.4 m) are classified as being short-statured. Children are considered unusually short if they fall below the third percentile of height for their age group. In 2004 there were approximately 5 million people of short stature (for their age) living in the United States, of whom 40 percent were under the age of 21.

Achondroplasia occurs in all races and with equal frequency in males and females and affects about one in every 40,000 children. The prevalence of Turner syndrome is widely reported as being approximately one per 2,500 live female births.

In 2004, more than 20,000 children in United States were receiving supplemental growth hormone (GH) therapy. It is estimated that about one-fourth of them had organic causes of GH deficiencies. There appears to be no racial or ethnic component to pituitary dwarfism, but males seem to be afflicted more often than females.

Causes and symptoms

Some prenatal factors known to contribute to growth retardation include a variety of maternal health problems, including toxemia, kidney and heart disease, infections such as rubella and maternal malnutrition . Maternal age is also a factor (adolescent mothers are prone to have undersize babies), as is uterine constraint (which occurs when the uterus is too small for the baby). Possible causes that center on the fetus rather than the mother include chromosomal abnormalities, genetic and other syndromes that impair skeletal growth, and defects of the placenta or umbilical cord. Environmental factors that influence intrauterine growth include maternal use of drugs (including alcohol and tobacco). Some infants who are small at birth (especially twins ) may attain normal stature within the first year of life, while others remain small throughout their lives.

Endocrine and metabolic disorders are another important cause of growth problems. Growth can be impaired by conditions affecting the pituitary, thyroid, parathyroid, and adrenal glands (all part of the endocrine system). Probably the best known of these conditions is growth hormone deficiency, which is associated with the pituitary and hypothalamus glands. If the deficiency begins prenatally, the baby will still be of normal size and weight at birth but will then experience slowed growth. Weight gain still tends to be normal, leading to overweight and a higher than average proportion of body fat. The facial structures of children with this condition are immature, making them look younger than their actual age. Adults in whom growth hormone deficiency has not been treated attain a height of only about 2.5 feet (76 cm). They also have high-pitched voices, high foreheads, and wrinkled skin. Another endocrine disorder that can interfere with growth is hypothyroidism , a condition resulting from insufficient activity of the thyroid gland. Affecting one in 4,000 infants born in the United States, it can have a variety of causes, including underdevelopment, absence, or removal of the thyroid gland, lack of an enzyme needed for adequate thyroid function, iodine deficiency, or an under-active pituitary gland. In addition to retarding growth, it can cause mental retardation if thyroid hormones are not administered in the first months of an infant's life. If the condition goes untreated, it causes impaired mental development in 50 percent of affected children by the age of six months.

About 15 percent of cases of short stature in children is caused by chronic diseases, of which endocrine disorders are only one type. Many of these conditions do not appear until after the fifth year of life. Children with renal disease often experience growth retardation, especially if the condition is congenital. Congenital heart disease can cause slow growth, either directly or through secondary problems. Short stature can also result from a variety of conditions related to inadequate nutrition , including malabsorption syndromes (in which the body is lacking a substanceoften an enzymenecessary for proper absorption of an important nutrient), chronic inflammatory bowel disorders, caloric deficiencies, and zinc deficiency. A form of severe malnutrition called marasmus retards growth in all parts of the body, including the head (causing mental retardation as well). Marasmus can be caused by being weaned very early and not adequately fed afterwards; if the intake of calories and protein is limited severely enough, the body wastes away. Although the mental and emotional effects of the condition can be reversed with changes in environment, the growth retardation it causes is permanent. On occasion, growth retardation may also be caused solely by emotional deprivation.

When to call the doctor

Growth problems should be tracked and addressed by a doctor at a child's regular check-ups. If the child is consistently below the fifth percentile on standard growth charts or if a child stops growing at all, the parent(s) should discuss the implications with the child's pediatrician.


Dwarfism is determined by direct measurement of a person's height. Achondroplasia can be detected through prenatal screening. X rays of the long bones may be performed in a newborn. Pituitary dwarfism can be diagnosed with blood tests for growth hormones or MRI of the head.


Since growth problems are so varied, there is a wide variety of treatments for them, including nutritional changes, medications to treat underlying conditions, and, where appropriate, hormone replacement therapy. There is no specific treatment for achondroplasia, besides treating any orthopedic problems that may arise.

More than 150,000 children in the United States receive growth hormone therapy to remedy growth retardation caused by endocrine deficiencies. Growth hormone for therapeutic purposes was originally derived from the pituitary glands of deceased persons. However, natural growth hormone, aside from being prohibitively expensive, posed health hazards due to contamination. In the 1980s, men who had received growth hormone therapy in childhood were found to have developed Kreuzfeldt-Jakob disease, a fatal neurological disorder. Since then, natural growth hormone has been replaced by a biosynthetic hormone that received FDA approval in 1985.


People who are short statured have approximately normal life expectancy. Administration of human growth hormone may increase their adult height although they are unlikely to attain normal height. Those with achondroplasia seldom reach 5 feet (1.5 m) in height.


There is no known way to prevent dwarfism because it results from genetic causes. Short stature as a result of parental neglect can be prevented. Education of the parents on the needs of the child is necessary, or the child may be removed from parental custody.

Nutritional concerns

Persons who have short stature should eat nutritionally sound, balanced meals. Their caloric requirements are slightly less than those of people who have normal height.

Parental concerns

Parents of children who are short statured should provide the same love and support as they would to any other child. In addition, they should offer counseling to help their children cope with their smaller stature. Adequate medical treatment should be provided to assure the best possible outcome.


Achondroplasia A congenital disturbance of growth plate development in long bones that results in a person having shortened limbs and a normal trunk.

Midget An individual who is short statured but has normal body proportions. The term is considered to be offensive.

See also Pituitary dwarfism; Turner syndrome.



Adelson, Betty M. Dwarfism: Medical and Psychological Aspects of Profound Short Stature. Baltimore, MD: Johns Hopkins University Press, 2005.

Kennedy, Dan. Little People: Learning to See the World through My Daughter's Eyes. Emmaus, PA: Rodale Press, 2003.

Parker, James N., and Philip M. Parker. Dwarfism (3-in-1 Medical Reference): A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, CA: Icon Publishers, 2004.


Chiavetta, J. B. "Total hip arthroplasty in patients with dwarfism." Journal of Bone and Joint Surgery: American Volume 86-A, no. 2 (2004): 298304.

Faivre, L., et al. "Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism." American Journal of Medical Genetics 126A, no. 3 (2004): 30812.

Laron, Z. "Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 19582003." Journal of Clinical Endocrinology and Metabolism 89, no. 3 (2004): 103144.

Pandian, R., and J. M. Nakamoto. "Rational use of the laboratory for childhood and adult growth hormone deficiency." Clinical Laboratory Medicine 2224, no. 1 (2004): 14174.


Human Growth Foundation. 7777 Leesburg Pike (PO Box 309), Falls Church, VA 22043. Web site: <www.hgfound.org/>.

Little People of America Inc. PO Box 745, Lubbock, TX 79408. Web site: <www.lpaonline.org/>.


"Dwarfism." Dwarfism.org. Available online at <www.dwarfism.org/> (accessed January 6, 2005).

"Dwarfism." MedlinePlus. Available online at <www.nlm.nih.gov/medlineplus/dwarfism.html> (accessed January 6, 2005).

"Dwarfism." Nemours Foundation. Available online at <http://kidshealth.org/parent/medical/bones/dwarfism.html> (accessed January 6, 2005).

"Dwarfism." Short Persons Support. Available online at <www.shortsupport.org/Health/Dwarfism.html> (accessed January 6, 2005).

"Dwarfism." University of Kansas Medical Center. Available online at <www.kumc.edu/gec/support/dwarfism.html> (accessed January 6, 2005).

"Dwarfism: What Is It?" Little People's Research Fund. Available online at <www.lprf.org/dwarfism.html> (accessed January 6, 2005).

L. Fleming Fallon, Jr., MD, DrPH


views updated May 18 2018


Life As a Little Person

What Is Dwarfism?

What Are the Signs of Dwarfism?

How Is Dwarfism Diagnosed and Treated?


Dwarfism and other types of short stature have many different causes.


for searching the Internet and other reference sources




Human growth hormone

Musculoskeletal system

Life As a Little Person

Don is an energetic and outgoing young man in his twenties, and when people stare he never misses the opportunity to explain that he has achondroplasia (a-kon-dro-PLAY-zee-a), a genetic condition that affects his skeletal system and causes his unusual appearance.

Don is 4 feet 5 inches tall, his arms and legs are very short, his head looks big for his body, his forehead bulges, and his jaw sticks out. Don tells people that the proper term for people with achondroplasia is dwarf or little person (although he prefers just plain Don). Don likes to show kids who are the same size he is that he can drive a car because the pedals have been equipped with extensions.

Don does not consider himself disabled, although dwarfism is recognized as a disability under the Americans with Disabilities Act. Don endured a lot of teasing as a child, but he attributes his self-esteem to a supportive family and to a peer group called Little People of America (LPA).

What Is Dwarfism?

Dwarfism is a condition that causes people to be unusually short. Many types of dwarfism are caused by an underlying genetic problem. Gene* mutations (changes) that cause dwarfism can be spontaneous (not carried by the parents), and most people with dwarfism are born to average-sized parents. In some cases, however, dwarfism is inherited.

* genes
are chemicals in the body that help determine a persons characteristics, such as hair or eye color. They are inherited from a persons parents and are contained in the chromosomes found in the cells of the body.

There are over 100 causes of short stature, many of which fall into the following categories:

  • Mutations (changes) in certain genes cause skeletal disorders in which the bones, especially the arms and leg bones, do not develop properly. Achondroplasia, the most common form of dwarfism, affects about 1 in 25,000 people. The average adult height of people with achondroplasia is 4 feet tall.
  • Metabolic and hormonal disorders can cause proportional short stature, a condition in which people are small but all of their body parts are proportional to each other. Malnutrition, kidney disease, or diseases in which the body cannot absorb food properly can cause this type of short stature. More commonly, it occurs when the pituitary gland, a hormone-secreting gland attached to the brain, does not secrete enough growth hormone.
  • Disorders of certain chromosomes also can cause short stature. For example, the average height of adult women with Turner syndrome, a genetic condition caused by a missing or partially missing X chromosome, falls between 4 feet 6 inches and 4 feet 8 inches without treatment. Down Syndrome, a condition that occurs when a person has three copies of chromosome 21, also results in arms and legs that are shorter than usual.

What Are the Signs of Dwarfism?

Unusually short stature and very short legs and arms are the most visible signs of dwarfism. Some people also are affected by other problems, which may include:

  • Late development of motor skills
  • Increased susceptibility to middle ear infections
  • Pressure on the brain and spinal cord, resulting in nerve and breathing problems
  • Hydrocephalus (hy-dro-SEF-a-lus), excess fluid in the brain
  • Crowding of teeth in the jaw
  • Weight problems
  • Curvature of the spine and bowed legs
  • Fatigue, numbness in the back and thighs, back pain
  • Problems with joints

How Is Dwarfism Diagnosed and Treated?


Once dwarfism is suspected in a developing child (for instance because of outward appearance, failure to grow, or how bones look in x-rays), doctors must find the underlying cause. Scientists know which genes cause some forms of dwarfism, so genetic tests can confirm or rule out those specific conditions. Growth hormone deficiency and certain other growth disorders should be looked for.


Dwarfism caused by a deficiency of growth hormone is treated by giving the child growth hormone injections; many patients receiving this treatment grow several inches per year faster than they did before treatment. The growth of girls with Turner syndrome can also be improved with growth hormone therapy. There is no proven way yet to successfully promote growth in people with many other forms of dwarfism, but medical care is essential to prevent and treat complications caused by skeletal abnormalities.


Joint replacement surgery can help improve mobility for some people with dwarfism. Sometimes, people with achondroplasia opt for an experimental surgical procedure that lengthens the arms and legs. It involves cutting a bone, inserting a scaffold between the bone segments, and allowing new bone to grow and fill in the gaps. Limb-lengthening surgery is not a common treatment; it is controversial; it is painful; it requires repeated surgeries; and it can lead to complications such as nerve damage.

See also

Birth Defects

Dietary Deficiencies

Down Syndrome

Genetic Diseases

Growth Disorders


Kidney Disease


Turner Syndrome



Roloff, Matt, and Tracy Sumner. Against Tall Odds: Being a David in a Goliath World. Sisters, OR: Multnomah, 1999.


Human Growth Foundation (HGF), 997 Glen Cove Avenue, Glen Head,
NY 11545
Telephone 800-451-6434

Little People of America (LPA) National Headquarters, Box 745,
Lubbock, TX 79408
Telephone: 888-LPA-2001


views updated May 09 2018

201. Dwarfism (See also Smallness.)

  1. Alberich king of dwarfs; lives in subterranean palace. [Norse Myth.: Leach, 33; Ger. Lit.: Nibelungenlied ]
  2. Andvari sometimes considered king of dwarfs; guarded Nibelung treasure. [Norse Myth.: Leach, 56]
  3. Dvalin inventor of runes. [Norse Myth.: Leach, 330]
  4. Elbegast king of dwarfs; dwelt in underground palace. [Norse Myth.: LLEI, I: 327]
  5. Hop-Frog crippled, deformed court fool. [Am. Lit.: Hop-Frog in Portable Poe, 317329]
  6. Matzerath, Oskar deliberately remains at the age of three physically. [Ger. Lit.: Günter Grass The Tin Drum in Magill IV, 1220]
  7. Nibelungs race of dwarfs who possess a hoard of gold. [Norse Myth.: Payton, 477]
  8. Oakmen squat, dwarfish people with red caps. [Br. Folklore: Briggs, 313314]
  9. Rumpelstiltskin homunculus spins gold in exchange for lasss first child. [Ger. Fairy Tale: Grimm, 196]
  10. Seven Dwarfs Doc, Happy, Sleepy, Sneezy, Bashful, Grumpy, Dopey. [Am. Cinema: Snow White and the Seven Dwarfs in Disney Films, 2532]


views updated May 21 2018

dwarfism (dworf-izm) n. abnormally short stature. The most common cause is achondroplasia. Dwarfism may also be caused by a deficiency of growth hormone due to a defect in the pituitary gland; a genetic defect in the response to growth hormone; thyroid deficiency (see cretinism); such chronic diseases as rickets; renal failure; and intestinal malabsorption.


views updated May 18 2018

dwarfism See growth hormone.