This HealthHearty article covers a few facts on dwarfism that will help you understand this rare, genetic condition.
You must have heard of Kenadie Jourdin-Bromley, the tiny Thumbelina of the real world. She was born on February 13, 2003 in Ontario Canada. She was just 2 pounds when she was born and given only 24 hours to live by her doctors. However, she managed to survive and was soon diagnosed with dwarfism. Dwarfism is a medical condition that leads to short stature of the person. These people generally are shorter than 4 feet 10 inches.
Facts about Dwarfism
Dwarfism is not a disorder, but a medical condition. It can be characterized as disproportionate dwarfism and proportionate dwarfism. In case of proportionate dwarfism, the body is well proportioned. Disproportionate dwarfism is a condition where one or more body parts are large or small in size when compared to a normal adult. Most of the time dwarfism is caused by genetic disorders that affect bone and cartilage development. In some cases, it can be due to growth hormone deficiency, termed pituitary dwarfism.
Many people wrongly believe that dwarfism is characterized by mental retardation and a short life span. However, this condition is not associated with any form of medical complications. The aging process and life expectancy is not any different from others. The typical adult height of an individual is about 2 feet 8 inches to 4 feet 8 inches.
There are different causes leading to this condition, each with specific symptoms.
70% of the cases of dwarfism are attributed to achondroplasia. This is an autosomal dominant disorder that is caused due to presence of an abnormal allele in the genome. There is a mutation in the fibroblast growth factor receptor gene 3. This gene acts as an inhibitor to bone growth. The symptoms of dwarfism due to achondroplasia are short limbs, increase in spinal curvature, distorted skull growth, and average sized trunk. This condition occurs in 1 in 15,000 to 40,000 newborns.
Growth Hormone deficiency
Growth hormone deficiency is a medical condition that causes insufficient production of growth hormone. Somatotropin, a growth hormone deficiency may cause stunted growth or halt growth suddenly. This may occur due to damage to pituitary gland, Turner’s syndrome, mutation in some specific genes, malnutrition, and even stress.
There are over 200 types of dwarfism that varies from an individual to individual. As we have seen earlier, the types are divided into two broad categories ‘disproportionate’ and ‘proportionate’ dwarfism. Some of the common types are discussed below:
Spondyloepiphyseal dysplasia congenita (SED)
This is a rare bone growth disorder that causes dwarfism. The symptoms due to spondyloepiphyseal dysplasia congenita include short stature from birth, short trunk, neck, and limbs. The hands and feet are average sized. The adult height is about 0.9 meters to 1.4 meters.
Diastrophic dysplasia affects development of cartilages and bones. This is an autosomal recessive dysplasia where the affected person has very short arms and legs. They have joint problems that restricts their mobility. The symptoms under this type include clubfoot with twisted metatarsals, inward and downward turning of foot, scoliosis, and hitchhiker thumbs.
Primordial dwarfism is a rare dwarfism type that is generally diagnosed in the fetus. The fetus is either very small for its gestational age or has some intrauterine growth disability during the ultrasound diagnosis. One of the interesting premoridial dwarfism fact is that only 100 individuals in the world are affected with this disorder. These individuals have a very small body size and rarely live more than 30 years.
Other dwarfism types include Achondroplasia, Pseudoachondroplasia, Hypochondroplasia, Pituitary Dwarfism, Osteogenesis Imperfecta, Turner Syndrome, and Psychogenic Dwarfism. One of the many dismaying facts is that there is no cure or treatment for this condition. However, with advancements in the field of genetics, we can hope to find a breakthrough.
These were some dwarfism facts that will help you understand this medical condition better. Hope the above paragraphs have helped clear some myths about dwarfism in your mind.