Dwarfism

People with dwarfism have a shorter-than-average height, typically caused by a genetic or medical problem. Height, in this context, is the measurement of a person standing upright. Generally, if an adult is 4 feet, 10 inches (147 cm) or shorter, they're considered to have dwarfism. On average, women with dwarfism are around 4 feet, 1 inch (125 cm) tall, and men are about 4 feet, 4 inches (132 cm).

There are various medical reasons why someone might have dwarfism. We can broadly group these reasons into two types:

• Disproportionate dwarfism: In this type, some parts of the body are smaller than average, while others might be normal or even larger than average. Problems with bone development are often the cause. For example, the arms or legs might be unusually short compared to the torso.

• Proportionate dwarfism: With proportionate dwarfism, all parts of the body are smaller in a similar way, making the person appear as if they have a smaller overall body frame. Conditions that affect growth and development from birth or early childhood typically lead to this type of dwarfism. This could include issues with hormone production or other underlying medical factors.

Some people who have dwarfism prefer to be called "people with short stature" or "little people," rather than using the terms "dwarf" or "dwarfism." It's always important to respect and use the terms that a person with this condition prefers. It's important to note that this isn't the same as "familial short stature." Familial short stature is when someone is shorter than average, but their body develops in a typical way, and the shorter height is simply a family trait.

Dwarfism: Understanding the Different Types and Symptoms

Dwarfism isn't one single condition; it's a group of conditions that affect growth. These conditions can cause a person to be much shorter than average, and the symptoms can vary significantly. There are two main types: disproportionate and proportionate dwarfism.

Disproportionate Dwarfism:

In disproportionate dwarfism, body parts aren't the same size. This often means a person has an average-sized torso (trunk) but unusually short arms and legs. Sometimes, the torso is short, but the arms and legs are disproportionately larger than the torso. In these cases, the head might be noticeably large compared to the rest of the body.

• Intelligence: Most people with disproportionate dwarfism have normal intelligence. Exceptions are rare and usually linked to a separate health issue, like too much fluid around the brain (hydrocephalus).

• Common Types and Symptoms:

  • Achondroplasia: This is the most common type of disproportionate dwarfism. It typically results in:

    • An average-sized torso
    • Short arms and legs, especially the upper arms and legs
    • Short fingers, sometimes with a gap between the middle and ring fingers
    • Limited elbow movement
    • A large head with a prominent forehead and a flattened nose bridge
    • Bowed legs that worsen with time
    • A swayback (lordosis) that worsens with time
    • Adult height typically around 4 feet 1 inch (women) and 4 feet 4 inches (men).

  • Spondyloepiphyseal Dysplasia Congenita (SEDC): This is a rare type of disproportionate dwarfism. Symptoms can include:

    • A very short torso
    • Short neck
    • Short arms and legs
    • Normal-sized hands and feet
    • A broad, rounded chest
    • Slightly flattened cheekbones
    • A cleft palate (opening in the roof of the mouth)
    • Problems with hip structure (thighbones turning inward)
    • Twisted or misshapen feet
    • Unstable neck bones
    • Worsening hunchback (kyphosis) and swayback (lordosis)
    • Vision and hearing problems
    • Joint pain and stiffness (arthritis)
    • Adult heights ranging from 3 feet (91 cm) to just over 4 feet (122 cm).

Proportionate Dwarfism:

In proportionate dwarfism, all body parts grow at the same reduced rate. The head, torso, and limbs are all smaller than average, but their sizes are in proportion to each other. Since this affects overall growth, problems with other body systems are possible.

• Growth Hormone Deficiency: One common cause is a lack of growth hormone. The pituitary gland, a small gland in the brain, produces this hormone, which is essential for normal childhood growth.

• Symptoms of Proportionate Dwarfism:

  • Height significantly below the average for age (often below the 3rd percentile on growth charts)
  • Slower-than-average growth rate
  • Delayed or absent sexual development during adolescence

Important Note: Symptoms of dwarfism, especially in disproportionate dwarfism, often appear at birth or in early childhood. In proportionate dwarfism, the condition might not be immediately noticeable. If you have concerns about your child's growth or development, consult a healthcare professional.

Some types of dwarfism show signs right after birth or in the first few years of a child's life. Other types, called proportionate dwarfism, might not be noticeable at first. If you have concerns about your child's growth or how they're developing, it's important to talk to their doctor.

Many cases of dwarfism are caused by changes in a person's genes. This can happen randomly during the development of a baby, or it can be passed down from parents who have a gene change themselves. Other possibilities include problems with hormone levels or poor nutrition. In some cases, the cause of dwarfism remains unknown.

A significant portion (about 80%) of people with achondroplasia, a common type of dwarfism, are born to parents of average height. This means that the child with achondroplasia inherited one altered gene related to the condition from one parent, and a regular gene from the other. A person with achondroplasia can then pass on either the altered gene or a regular gene to their own children.

Turner syndrome is a condition that only affects girls. It happens when a girl is missing part or all of one of her X chromosomes. Normally, girls inherit one X chromosome from each parent. But in Turner syndrome, a girl only has one fully functioning X chromosome instead of the usual two.

Sometimes, low levels of growth hormones are caused by a genetic change or an injury. However, for many people with low hormone levels, the reason isn't found.

Dwarfism can also be caused by other genetic conditions, problems with hormones other than growth hormones, or poor nutrition. In some cases, the specific cause remains unknown.

Dwarfism risk varies depending on the specific type. Sometimes, a change in a gene linked to dwarfism occurs unexpectedly, not inherited from either parent. However, if one or both parents have dwarfism, the chance of a child inheriting it increases.

If you're planning a pregnancy and want to know about the possibility of your child having dwarfism, discuss genetic testing options with your doctor. They can also help you understand other potential risk factors.

People with dwarfism, a condition affecting growth, can experience various health problems. These issues can vary depending on the specific type of dwarfism. Some complications are common to many types.

Many forms of dwarfism involve unusual development of the head, spine, and limbs. This often leads to several shared challenges:

• Delayed motor skills: Learning to sit, crawl, and walk might take longer than usual.
• Frequent ear infections and potential hearing loss: Repeated ear infections are a common issue, which can increase the risk of hearing problems.
• Bowed legs: The bones in the legs may curve abnormally.
• Sleep apnea: Difficulty breathing during sleep is a possibility.
• Hydrocephalus: Extra fluid building up around the brain can occur.
• Dental problems: Dental care is often more complex.
• Severe back problems: Some people experience a curved or swayed back, which can lead to pain and breathing difficulties.
• Arthritis: Joint pain and stiffness can develop over time.

In some types of dwarfism, like those that are proportionate, problems with overall growth can affect other organs. For example, Turner syndrome, a type of dwarfism, may be connected to heart conditions. The lack of proper sexual development, sometimes linked to low growth hormone levels or Turner syndrome, can also affect a person's physical and social well-being.

Women with certain types of dwarfism (disproportionate) can face pregnancy-related difficulties. A cesarean section (C-section) delivery is usually required because the shape of the pelvis may not allow a normal vaginal birth.

While some people with dwarfism identify with terms like "dwarf," "little person," or "person of short stature," others prefer not to be defined by their condition.

Unfortunately, people of average height sometimes hold incorrect beliefs about those with dwarfism. Stereotypical portrayals in movies and other media can also contribute to these misunderstandings. These misconceptions can negatively impact self-esteem and hinder success in school and work.

Children with dwarfism may experience teasing and bullying from their peers. Because dwarfism is less common, children with this condition may feel isolated. They may need support from mental health professionals and peers to thrive and live fulfilling lives.

Doctors use several methods to determine if a child has a condition related to dwarfism. This process often involves specialists beyond the pediatrician.

How Doctors Diagnose Dwarfism-Related Conditions

A pediatrician will likely assess a child's growth and development. This includes:

• Measurements: The pediatrician regularly checks height, weight, and head size. These measurements are plotted on growth charts, which show how the child's measurements compare to others of the same age. If the child's growth deviates significantly from the norm (either too slow or too fast, or a large head compared to body size), the pediatrician might monitor growth more closely. This charting helps spot unusual patterns early on.

• Physical Appearance: Many dwarfism conditions have specific facial and body features. A child's appearance can be a clue for the doctor in identifying potential issues. A geneticist may also be involved to further assess these traits.

• Imaging Tests: X-rays and other imaging techniques can reveal differences in bone structure and growth. These differences might suggest a specific dwarfism condition. For example, delayed bone development could indicate a hormonal imbalance. An MRI scan might be used to look for problems with the pituitary gland or hypothalamus, which are crucial for growth hormone production.

• Genetic Tests: Genetic tests can pinpoint the specific genetic cause of some dwarfism conditions. These tests can confirm a diagnosis and help families plan for the future. For example, if Turner syndrome is suspected, a blood test looking at the X chromosomes could be performed.

• Family History: The pediatrician might ask about the heights of relatives. Knowing the family's average height can help determine if short stature is a common trait or if it's unusual.

• Hormone Tests: Blood tests can measure levels of growth hormone and other hormones essential for normal growth. Low levels of these hormones can be a sign of a growth-related problem.

A Team Approach to Care

Many conditions that cause dwarfism can lead to other medical challenges. Therefore, a team of specialists often works together to support the child's health needs. This team may include:

• Endocrinologist: A specialist in hormone disorders.
• Otolaryngologist (ENT): A specialist in ear, nose, and throat issues.
• Orthopedist: A specialist in skeletal disorders.
• Medical Geneticist: A specialist in genetic disorders.
• Cardiologist: A heart specialist.
• Ophthalmologist: An eye specialist.
• Mental Health Professionals (e.g., psychologist, psychiatrist): To address any developmental or emotional needs.
• Neurologist: A specialist in nervous system conditions.
• Orthodontist: A specialist in teeth alignment.
• Developmental Therapist: To help with age-appropriate behaviors, social skills, and interactions.
• Occupational Therapist: To develop daily living skills and use assistive devices.

The specific specialists involved may change as the child grows and their needs evolve. The pediatrician or family doctor acts as a coordinator for all the specialists involved in the child's care.

Treating Dwarfism: A Multifaceted Approach

The goal of treating dwarfism is to help people live as independently and comfortably as possible. Most treatments don't make someone taller, but they address problems that can arise as a result of the condition. These problems can vary greatly from person to person.

Medications:

• Voxzogo (vosoritide): In 2021, the FDA approved a medicine called Voxzogo to help children with a common type of dwarfism, achondroplasia, grow taller. It's given as a shot and is for children aged 5 and older whose growth plates are still open. Studies show that children taking Voxzogo typically grew about half an inch on average. It's essential to discuss the potential benefits and risks with your doctor and a genetics specialist. Research into other medications for dwarfism is ongoing.
• Growth Hormone Therapy: If low growth hormone levels are the cause of dwarfism, replacement therapy with synthetic growth hormone can help increase final height. This often involves daily injections for several years until the person reaches their adult height, which is often within the average range for their family. In some cases, this therapy might need to continue into adulthood to support development. Sometimes other hormones need to be added to the treatment if levels are low in those areas as well. For example, girls with Turner syndrome may require estrogen replacement therapy to start puberty and reach typical adult sexual development. This therapy usually continues until the average age of menopause. It's important to understand that growth hormone therapy in children with achondroplasia doesn't typically lead to a significant increase in adult height.

Surgery:

Surgical procedures may be necessary to address specific problems related to dwarfism, especially in cases of disproportionate dwarfism. These procedures can include:

• Correcting bone growth direction: This might involve adjusting how bones grow to improve their alignment.
• Stabilizing and correcting spinal shape: This could involve procedures to straighten or stabilize the spine.
• Expanding spinal openings: Widening the spaces between the vertebrae (bones in the spine) can alleviate pressure on the spinal cord.
• Treating hydrocephalus: If fluid buildup around the brain (hydrocephalus) occurs, a shunt (a tube) can be placed to drain excess fluid.
• Limb lengthening: Some people opt for procedures to lengthen their limbs. This is a complex and controversial procedure with potential risks and should be carefully considered. Ideally, people should have enough time to fully understand the procedure, its risks, and its potential benefits before making a decision. Because of the emotional and physical stress involved, it's important to make the decision with the support of a healthcare professional and to be fully informed.

Ongoing Care:

Regular checkups with a healthcare provider familiar with dwarfism are crucial. This allows for proactive management of potential complications as they arise. This includes managing symptoms like ear infections, spinal stenosis (narrowing of the spinal canal), or sleep apnea. Adults with dwarfism also need ongoing monitoring and treatment for conditions that can develop throughout their lives.

Helping a Child with Dwarfism

If your child has dwarfism, there are many ways to help them overcome challenges and become more independent. A great first step is to seek support from organizations like Little People of America (LPA). LPA offers valuable resources, including social connections, information about dwarfism, advocacy opportunities, and helpful materials. Many people with dwarfism find ongoing support and connections through LPA.

Making your home more accessible is another important step. Modifications like installing special light switch extensions, lower handrails, and lever-style doorknobs can greatly improve safety and independence. LPA's website has links to companies that sell adaptive products specifically designed for people with dwarfism, including appropriately sized furniture and tools for everyday use.

Consider providing your child with adaptive tools for daily tasks. Limited arm reach and hand function can make everyday activities and self-care challenging. The LPA website has resources to connect you with companies that make adaptive personal products and clothing. An occupational therapist can also recommend tools and strategies for use at home and school.

Communicating with educators is crucial. Talk to your child's teachers and school staff about dwarfism. Explain how it affects your child, what specific needs they might have in the classroom, and how the school can best support them. This open communication will ensure that the school environment is supportive and accommodating.

Addressing teasing and bullying is also important. Encourage your child to talk to you about any feelings they have, whether it's teasing or bullying. Practice how they can respond to insensitive questions or teasing, and role-play different scenarios. If your child mentions bullying at school, immediately contact their teacher, principal, or school counselor. Also, request a copy of the school's anti-bullying policy. This demonstrates your commitment to ensuring your child feels safe and supported at school.