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Dwarfism occurs when an individual person or animal is short in stature resulting from a medical condition caused by abnormal (slow or delayed) growth. In humans, dwarfism is sometimes defined as an adult height of less than 147 cm (58 inches), although this definition is problematic because short stature in itself is not a disorder.

Causes, incidence, and risk factors

Short stature refers to any person who is significantly below the average height for a person of the same age and sex. This problem may happen if the person does not produce enough growth hormone. Growth hormone is produced in the pituitary gland, which is located at the base of the brain. Most of the time, the cause of growth hormone deficiency is unknown. It may be present at birth (congenital) or develop as the result of an injury or medical condition. Severe brain injury may also cause growth hormone deficiency. Children with physical defects of the face and skull, such as cleft lip or cleft palate, may have poorly developed pituitary glands and decreased growth hormone levels. Slow growth may first be noticed in infancy and continue throughout childhood. Your child's pediatrician will usually plot your child's "growth curve" on a standardized growth chart. The child's growth may range from flat (no growth) to very shallow (minimal growth). Although it is uncommon, growth hormone deficiency may also be diagnosed in adults. Possible causes include:

Tumors involving the pituitary gland or hypothalamus Brain radiation treatments for cancer Severe head injury

The most common types of dwarfism, known as skeletal dysplasias, are genetic. Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism. They include:

Achondroplasia - The most common form of dwarfism, achondroplasia occurs in about one out of 26,000 to 40,000 babies and is evident at birth. People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. Other features of achondroplasia include:

a large head with a prominent forehead a flattened bridge of the nose protruding jaw crowded and misaligned teeth forward curvature of the lower spine bowed legs flat, short, broad feet "double-jointedness"

Spondyloepiphyseal dysplasias (SED) - A less common form of dwarfism, SED affects approximately one in 95,000 babies. Spondyloepiphyseal dysplasia refers to a group of conditions characterized by a shortened trunk, which may not become apparent until a child is between 5 and 10 years old. Other features can include:

club feet cleft palate severe osteoarthritis in the hips weak hands and feet barrel-chested appearance

Diastrophic dysplasia - A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening).

Other signs can include

deformed hands and feet limited range of motion cleft palate ears with a cauliflower appearance

Children with growth hormone deficiency have a slow or flat rate of growth, usually less than 2 inches per year. The slow growth may not appear until a child is 2 or 3 years old. The child will be much shorter than most or all children of the same age and gender. Children with growth hormone deficiency still have normal body proportions, as well as normal intelligence. However, their face often appears younger than children of the same age. They may also have a chubby body build. In older children, puberty may come late or may not come at all, depending on the cause.

Signs and tests

A physical examination -- including weight, height, and body proportions -- will show signs of slowed growth rate. The child will not follow the normal growth curves. Hand xray (usually the left hand) can determine bone age. Normally, the size and shape of bones change as a person grows. These changes can be seen on an x-ray and usually follow a pattern as a child grows older. Testing for growth deficiency requires more than a simple blood test. Testing is usually done after your child's pediatrician has explored other causes of poor growth.

Growth hormone causes the body to make insulin-like growth factor (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3). Tests can measure these growth factors.

Accurate growth hormone deficiency testings involves a stimulation test. This test takes several hours.

MRI of the head can show the hypothalamus and pituitary glands. Tests to measure other hormones levels (lack of growth hormone may not be the only problem) may be done.


Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. In many cases, people with dwarfism have orthopaedic or medical complications. Treatment of those can include:

Insertion of a shunt to drain excess fluid and relieve pressure on the brain. A tracheotomy to improve breathing through small airways. Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs. Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils, small facial structures, and/or a small chest.

Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal cord compression. Other treatment may include:

Physical therapy to strengthen muscles and increase joint range of motion. Back braces to improve curvature of the spine. Placement of draining tubes in the middle ear to help prevent hearing loss due to repeated ear infections.

Orthodontic treatment to relieve crowding of teeth caused by a small jaw. Nutritional guidance and exercise to help prevent obesity, which can aggravate skeletal problems.