Overview
Dwarfism is a condition characterized by short stature resulting from a genetic or medical disorder. It is generally defined as an adult height of 4 feet 10 inches (147 centimeters) or less. Dwarfism can be classified into two categories: disproportionate and proportionate. Disproportionate dwarfism affects the development of bones, resulting in a body where some parts are small, while others are of average or above-average size. In contrast, proportionate dwarfism involves medical conditions that limit overall growth and development, resulting in a body that is proportionately small. The symptoms and causes of dwarfism can vary greatly depending on the underlying medical condition.
Understanding the disease
Symptoms
The symptoms of dwarfism can vary depending on the underlying cause. However, common features of disproportionate dwarfism include:
- Short stature with disproportionate body proportions
- Short arms and legs, with particularly short upper arms and upper legs
- Short fingers, often with a wide separation between the middle and ring fingers
- Limited mobility at the elbows
- A disproportionately large head, with a prominent forehead and a flattened bridge of the nose
- Progressive development of bowed legs
- Progressive development of swayed lower back
- Delays in motor skills development, such as sitting up, crawling, and walking
- Frequent ear infections and risk of hearing loss
- Bowing of the legs
- Difficulty breathing during sleep (sleep apnea)
- Pressure on the spinal cord at the base of the skull
- Excess fluid around the brain (hydrocephalus)
- Crowded teeth
Development
Dwarfism can develop due to a variety of genetic or medical conditions, which can be categorized into two main types: disproportionate dwarfism and proportionate dwarfism. Disproportionate dwarfism occurs when some parts of the body are smaller than average, while others are of average size or above-average size. This type of dwarfism is caused by disorders that inhibit the development of bones. Examples of disorders that cause disproportionate dwarfism include achondroplasia and spondyloepiphyseal dysplasia congenita (SEDC). Achondroplasia is the most common cause of disproportionate dwarfism, resulting in characteristics such as short arms and legs, a disproportionately large head, and limited mobility at the elbows. People with disproportionate dwarfism typically have an average-size trunk, and their adult height ranges from 4 feet (122 cm) to just over 4 feet (122 cm). Proportionate dwarfism, on the other hand, results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. In this type of dwarfism, the head, trunk, and limbs are all small, but they are proportionate to each other. Examples of conditions that cause proportionate dwarfism include growth hormone deficiency, which occurs when the pituitary gland fails to produce an adequate supply of growth hormone. Signs of proportionate dwarfism include height below the third percentile on standard pediatric growth charts, a growth rate slower than expected for age, and delayed or no sexual development during the teen years. In summary, dwarfism can develop due to various genetic or medical conditions, which can be categorized into disproportionate dwarfism and proportionate dwarfism. These conditions affect the growth and development of different body parts, resulting in varying characteristics and adult heights.
Assessment and Diagnosis
Triage
You should see a doctor if dwarfism is suspected or if you have concerns about your child's growth or overall development. Signs and symptoms of disproportionate dwarfism are often present at birth or in early infancy, while proportionate dwarfism may not be immediately apparent.
Diagnosis
To diagnose dwarfism, a pediatrician will likely examine various factors, including measurements of height, weight, and head circumference, assessment of the child's appearance, imaging technology, genetic tests, and family history. Additional hormone tests may also be ordered to assess growth hormone levels and other critical hormones for childhood growth and development. It's essential to discuss any concerns with the child's doctor, who can provide guidance on necessary diagnostic tests and specialist consultations.
Management and Treatment
Complications
Potential complications of dwarfism include delays in motor skills development, frequent ear infections and risk of hearing loss, bowing of the legs, difficulty breathing during sleep (sleep apnea), pressure on the spinal cord at the base of the skull, excess fluid around the brain (hydrocephalus), crowded teeth, vision and hearing problems, arthritis and problems with joint movement, and complications associated with specific forms of dwarfism such as spondyloepiphyseal dysplasia congenita (SEDC).
Treatment
The goal of treatment for dwarfism is to maximize functioning and independence. Most treatments do not increase stature but may correct or relieve problems caused by complications. Some surgical procedures that may correct problems in people with disproportionate dwarfism include correcting the direction in which bones are growing, stabilizing and correcting the shape of the spine. Adults with dwarfism should continue to be monitored and treated for problems that occur throughout life. Limb lengthening surgery, called extended limb lengthening, is a controversial option for some people with dwarfism due to the risks involved. It is recommended to wait until the person with dwarfism is old enough to participate in the decision, considering the emotional and physical stress of multiple procedures. At-home care and lifestyle modifications are also important for children with disproportionate dwarfism. These may include using an infant car seat with firm back and neck supports, modifying your home to accommodate accessibility needs, and seeking support from organizations like Little People of America. Overall, treatment for dwarfism involves a combination of medical interventions, lifestyle adjustments, and supportive care to help maximize the individual's functioning and quality of life.