WHAT IS DWARFISM?
Dwarfism is a condition characterized by short stature. According to the Little People of America (LPA), dwarfism is a designation for adults 4 feet 10 inches and shorter. Dwarfism may be the result of any one of 300 genetic conditions. The most common genetic condition that causes dwarfism is achondroplasia.
What are Common Myths About Dwarfism?
There are some common misconceptions about dwarfism. For example, some people believe that parents of “normal” stature cannot have a child with dwarfism. Contrary to popular belief, dwarfism can occur in families of average height and taller. In fact, 4 out of 5 children with achondroplasia are born to average-sized parents.
Another misconception is the assumption that dwarfism is an intellectual disability. In contrast, most people with dwarfism possess normal intelligence. Similarly, it is wrong to assume that dwarfism is a “disease” that needs a cure. Dwarfism is a characterization, but there is no reason that a person with dwarfism should not be able to live a fulfilling life.
Finally, dwarfism is not an indication that someone is incapable. People with dwarfism can go to school, work, own businesses, drive cars, participate in hobbies, get married, and raise children. They can lead lives quite similar to any of their average-sized peer cohort. Most individuals with dwarfism refer to themselves as “little people” and enjoy recognition for their contributions as equal members of society.
What Causes Dwarfism?
Now that we have dispelled some of the false stereotypes and stigmas associated with dwarfism, it is time to understand what causes short stature. Any one of 300 genetic conditions can cause dwarfism. Some recognized causes include the following:
- Genetic change (mutation) in sperm cell or egg prior to conception
- Metabolic or hormonal abnormalities during childhood
- Pituitary gland disorders (which influence growth hormones and metabolism)
- Inadequate absorption of growth-related nutrients
- Certain types of kidney disease
While it is informative to know some of the causes of dwarfism, you should know that it is not a “disease” that must be fixed. It can happen with any pregnancy. If a child’s parent has some form of dwarfism, it is possible to pass the condition onto offspring. That said, it is also possible for two little people to have average-sized offspring.
TYPES OF DWARFISM
What are the Different Types of Dwarfism?
Most types of dwarfism involve short stature from abnormal born growth (known as skeletal dysplasia). There are two kinds of skeletal dysplasia: short-trunk dwarfism and short-limb dwarfism. As the names imply, little people with short-trunk dwarfism tend to have small torsos by average-sized limbs, and little people with short-limb dwarfism have average-sized torsos but small arms and legs.
Common Forms of Short-Limb Dwarfism:
- Achondroplasia – The most common form of skeletal dysplasia. It is a type of short-limb dwarfism that occurs around every 1 of 15,00 to 40,000 births across all races and ethnicities. It either results from a random mutation of the FGFR3 gene or as an inherited trait from a parent with achondroplasia. Characteristics of achondroplasia include average-sized torsos, shortened arms and legs, larger head and forehead, flattened nose, and low muscle tone. Most adults with achondroplasia measure around 4 feet tall in height.
- Diastrophic dysplasia – Occurring in around 1 of every 100,000 births, characteristics of this type of short-limb dwarfism include average-sized torsos, cleft palate, clubfeet, and shorter forearms and calves (referred to as mesomelic shortening).
Common Forms of Short-Trunk Dwarfism:
- Spondyloepiphyseal dysplasias (SED) – A set of conditions characterized by an absence of growth in the torso. This type is the most common form of skeletal dysplasia after achondroplasia and diastrophic dysplasia. Because limbs may be of average size with spondyloepiphyseal dysplasias, however, children may not receive a diagnosis until after preschool age. Associated traits include clubfeet, cleft palate, and hearing or vision problems.
All types of skeletal dysplasia result in disproportionate short stature. This means that either the torso or limbs do not match in proportion (as is the case with the average-sized person). The head may also appear larger. In contrast, metabolic or hormonal dwarfism (e.g. severe human growth hormone deficiency) results in proportionate short stature. Such conditions cause smaller overall height, but limbs and torso remain proportional to the rest of the body.
DIAGNOSIS & TREATMENT
What is the Process for Dwarfism Diagnosis and Treatment?
Due to advances in prenatal tests and ultrasounds, some kinds of dwarfism may receive a diagnosis before a child is born. This gives the parent time to adjust to idea and read on related material. However, most dwarfism diagnoses occur post-natal. Based on the symptoms, physicians can often make a dwarfism diagnosis immediately after birth or following x-rays of the bones.
It is important to note there is no “treatment” for skeletal dysplasia (the most common category of dwarfism that includes achondroplasia). A few types of metabolic or hormonal dwarfism may be altered with hormonal injections, but any skeletal types of dwarfism cannot be changed.
Since dwarfism usually involves related conditions (such as cleft palette or clubfeet), there are various treatments that can address these associated conditions and help children of short stature live happier and more fulfilling lives.
For example, children with dwarfism may receive the following types of treatment:
- Occupational therapy for the development of gross motor skills like sitting and walking (which may occur later than other children due to shortened limbs or torso); therapy from problems resulting from curvature of the spine or bowed legs
- Physical therapy to help build fine motor skills of shortened extremities or to mitigate issues with clubfeet
- Speech therapy and feeding therapy to address developmental delays that may have resulted from cleft palette
- Adaptive skills therapy to help children operate according to age and developmental level (rather than smaller size)
Contact The Warren Center for more information on services for dwarfism.