Dwarfism – Symptoms and Causes

Overview

Dwarfism refers to a condition where a person has significantly shorter stature. This is typically defined as an adult height of 4 feet, 10 inches (147 cm) or less.

Among adults with dwarfism, women average about 4 feet, 1 inch (125 cm) tall, while men average 4 feet, 4 inches (132 cm).

Medical experts classify dwarfism into two main types:

Disproportionate Dwarfism:

• Some body parts remain small
• Other parts may be average or larger sized
• Results from conditions affecting bone development

Proportionate Dwarfism:

• All body parts are reduced in size equally
• The person appears like a smaller version of an average-height individual
• Often caused by conditions present at birth or early childhood

Being shorter than average because of genetics (familial short stature) is not dwarfism, as it involves normal bone development.

When referring to people with this condition, terminology preferences vary. Some individuals prefer terms like “short stature” or “little people” instead of “dwarf” or “dwarfism.” Respecting personal preferences about terminology shows sensitivity and consideration.

Physical Signs of Restricted Growth

Uneven Growth Patterns

People with uneven growth patterns have body parts that grow at different rates. Most often, they have a regular-sized trunk with very short arms and legs.

Some might have a small trunk with short arms and legs that look large compared to the rest of the body. Their head may appear bigger than their body.

Most people with uneven growth have normal intelligence. In rare cases where intelligence is affected, it’s usually due to other health issues like fluid buildup around the brain.

The most common cause of uneven growth is a condition called achondroplasia. People with this condition typically have:

• Normal-sized trunk
• Short arms and legs, especially upper arms and thighs
• Short fingers with wide gaps between middle and ring fingers
• Limited elbow movement
• Larger head with prominent forehead and flat nose bridge
• Legs that bow outward and worsen over time
• Lower back curve that increases with age
• Adult height of about 4’1″ (125 cm) for women and 4’4″ (132 cm) for men

Another rare condition causing uneven growth is spondyloepiphyseal dysplasia congenita (SEDC). Signs may include:

• Very short trunk
• Short neck
• Shortened limbs with normal-sized hands and feet
• Broad, rounded chest
• Slightly flat cheekbones
• Cleft palate (opening in roof of mouth)
• Inward-turning thighbones
• Twisted or misshapen feet
• Unstable neck bones
• Progressive upper spine curvature
• Increasing lower back sway
• Vision and hearing issues
• Joint problems and arthritis
• Adult height between 3′ (91 cm) and just over 4′ (122 cm)

Even Growth Patterns

Even growth patterns happen when medical conditions present at birth or early childhood limit overall growth. The head, trunk, and limbs are all small but remain proportionate to each other. These conditions may affect multiple body systems.

Growth hormone deficiency is a common cause of even growth patterns. This happens when the pituitary gland doesn’t produce enough growth hormone needed for normal childhood development. Signs include:

• Height below the third percentile on standard growth charts
• Slower than expected growth rate for age
• Delayed or absent sexual development during teenage years

When Medical Help Is Needed

Signs of uneven growth patterns are often visible at birth or in early infancy. Even growth patterns might not be noticeable right away. Consult a healthcare provider if you’re concerned about your child’s growth or development.

Causes

Dwarfism occurs for several reasons. Gene changes are the most common cause, which can happen randomly or be inherited from parents. Other factors include hormone deficiencies and poor nutrition. In some cases, doctors cannot identify the exact cause.

Achondroplasia

About 80% of people with achondroplasia have parents of average height. This happens because of a spontaneous gene change. When someone has achondroplasia, they receive one modified gene related to the condition and one regular gene.

If they have children, they may pass either the changed gene or the regular gene to their offspring.

Turner Syndrome

Turner syndrome affects only females and occurs when an X chromosome is missing or partially missing. Normally, girls inherit one X chromosome from each parent, giving them two X chromosomes.

Girls with Turner syndrome have only one complete X chromosome instead of two, which affects their growth and development.

Growth Hormone Deficiency

Some people have lower levels of growth hormones than needed for normal development. This condition sometimes stems from genetic changes or injuries. However, doctors cannot find a specific cause in most cases of hormone deficiency.

Additional Causes

Several other factors can lead to dwarfism:

• Other genetic conditions beyond achondroplasia
• Deficiencies in other hormones besides growth hormone
• Nutritional problems during development

Sometimes medical professionals cannot determine why dwarfism occurs in certain individuals despite thorough evaluation.

Risk Factors

The chance of having dwarfism varies based on the specific type. Many cases happen randomly due to gene changes that aren’t inherited from parents. However, risk increases when one or both parents have dwarfism.

If you’re planning to have a baby and want to understand your child’s chances of having dwarfism, consider these options:

• Speak with your healthcare provider about genetic testing
• Ask about additional risk factors that might apply to your situation

Genetic counseling can provide valuable information about inheritance patterns and help you make informed decisions about family planning.

Health Complications

Physical Growth Differences

People with disproportionate growth patterns face several common challenges. Motor skill development often occurs more slowly, with delays in sitting, crawling, and walking.

Many experience frequent ear infections that may lead to hearing loss. Leg bowing is common, as are breathing difficulties during sleep. Some individuals develop pressure at the skull base where it meets the spinal cord.

Extra fluid can build up around the brain. Dental issues often require specialized care. Back problems may worsen over time, leading to serious curvature and pain.

Many develop spinal stenosis—a narrowing in the lower spine that causes nerve pressure, resulting in leg pain or numbness. Arthritis frequently occurs. Weight gain can worsen joint and spine problems.

Even Growth Patterns

When all body parts remain proportionate but smaller, complications often involve internal organs that don’t develop properly. Heart issues commonly associated with conditions like Turner syndrome can significantly impact overall health.

Insufficient growth hormone production or certain genetic conditions may prevent normal sexual development, affecting both physical growth and social interactions.

Childbearing Challenges

Pregnant women with disproportionate growth patterns often experience breathing difficulties as the pregnancy progresses. Due to pelvis size and shape limitations, cesarean delivery is typically necessary, as vaginal births are rarely possible.

Social Understanding

Most individuals with short stature prefer not to be defined by their condition. Some may use terms like “little people” or “people of short stature” when referring to themselves.

Misconceptions among average-height people remain common. Media portrayals often rely on outdated stereotypes, which can damage self-esteem and create barriers to educational and professional success.

Children with these conditions frequently face teasing from classmates. Since these conditions are relatively uncommon, children may feel isolated. Mental health support and connections with peers who share similar experiences often prove essential for maintaining good quality of life.