Dwarfism

Overview

Dwarfism occurs when an individual person or animal is short in stature resulting from a medical condition caused by slow growth. In humans, dwarfism is sometimes defined as an adult height of less than 4 feet 10 inches (58 in; 147 cm).[1] Dwarfism can be caused by more than 300 distinct medical conditions, such that the symptoms and characteristics of individuals with dwarfism vary greatly. Disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average-sized adult, with growth variations in specific areas being apparent. In cases of proportionate dwarfism, the body appears normally proportioned, but is unusually small.

Symptoms

Skeletal dysplasias are the most common forms of dwarfism. These are characterized by abnormal body proportions. Typically, the arms and legs are too short in proportion with the rest of the body. However, sometimes the rest of the body may appear to be too short for the arms and legs. Other problems associated with many skeletal dysplasias include problems with the bones and joints, particularly the spine and legs. Poor muscle tone and a waddling walk are common. Many children with skeletal dysplasias also have a high-pitched voice that does not deepen following puberty.

Causes

Dwarfism can result from myriad medical conditions, each with its own separate symptoms and causes. Extreme shortness in humans with proportional body parts usually has a hormonal cause, such as growth-hormone deficiency, once called pituitary dwarfism. Two disorders, achondroplasia and growth hormone deficiency (also known as pituitary dwarfism), are responsible for the majority of human dwarfism cases.

Achondroplasia

The most recognizable and most common form of dwarfism in humans is achondroplasia, which accounts for 70% of dwarfism cases, occurs in 4 to 15 out of 100,000 live births.

It produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. In achondroplasia the body's limbs are proportionately shorter than the trunk (abdominal area), with a larger head than average and characteristic facial features. Achondroplasia is an autosomal dominant disorder caused by the presence of a faulty allele in the genome. If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor 3. In the context of achondroplasia, this mutation causes FGFR3 to become constitutively active, inhibiting bone growth.

Research by urologist Harry Fisch of the Male Reproductive Center at Columbia Presbyterian Hospital indicates that in humans this defect may be exclusively inherited from the father and becomes increasingly probable with paternal age: specifically males reproducing after 35.

Growth hormone deficiency

Growth hormone deficiency (GHD) is a medical condition in which the body produces insufficient growth hormone. Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growthand cell reproduction. If this hormone is lacking, stunted or even halted growth may become apparent. Children with this disorder may grow slowly and puberty may be delayed by several years or indefinitely. Growth hormone deficiency has no single definite cause. It can be caused by mutations of specific genes, damage to the pituitary gland, Turner's syndrome, poor nutrition, or even stress (leading to psychogenic dwarfism). Laron syndrome (growth hormone insensitivity) is another cause.

Other

Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Turner syndrome,osteogenesis imperfecta (OI) and hypothyroidism. Severe shortness with skeletal distortion also occurs in several of the Mucopolysaccharidoses and other storage disorders.

Serious chronic illnesses may produce dwarfism as a side effect. Harsh environmental conditions, such as malnutrition, may also produce dwarfism. These types of dwarfism are indirect consequences of the generally unhealthy or malnourished condition of the individual, and not of any specific disease. The dwarfism often takes the form of simple short stature, without any deformities. In societies where poor nutrition is widespread, the average height of the population may be reduced below its genetic potential by the lack of proper nutrition.


 

Prevention

Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variation that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism.

Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.

Diagnosis

Dwarfism is often diagnosed in childhood on the basis of visible symptoms. A physical examination can usually suffice to diagnose certain types of dwarfism, but genetic testing and diagnostic imaging may be used to determine the exact condition. In a person's youth, growth charts that track height can be used to diagnose subtle forms of dwarfism that have no other striking physical characteristics.

Short stature or stunted growth during youth is usually what brings the condition to medical attention. Skeletal dysplasia is usually suspected because of obvious physical features (e.g., unusual configuration of face or shape of skull), because of an obviously affected parent, or because body measurements (arm span, upper to lower segment ratio) indicate disproportion. Bone X-rays are often key to diagnosing a specific skeletal dysplasia, but are not the sole diagnostic tool. Most children with suspected skeletal dysplasias are referred to a genetics clinic for diagnostic confirmation and genetic counseling. Since about the year 2000, genetic tests for some of the specific disorders have become available.

During an initial medical evaluation of shortness, the absence of disproportion and other clues listed above usually indicates causes other than bone dysplasias. Extreme shortness with completely normal proportions sometimes indicates growth hormone deficiency (pituitary dwarfism).

Short stature alone, in the absence of any other abnormalities, may be the result of the distribution of offspring height from short-statured parents, rather than a symptom of any medical condition.

Treatment

Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation.

Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but physical complications may be permanent.

Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgical procedures. The only simple interventions that increase perceived adult height are dress enhancements, such as shoe lifts or hairstyle. Growth hormone is rarely used for shortness caused by bone dysplasias, since the height benefit is typically small (less than 5 cm [2 in]) and the cost high. The most effective means of increasing adult height by several inches is distraction osteogenesis, though availability is limited and the cost is high in terms of money, discomfort, and disruption of life. Most people with dwarfism do not choose this option, and it remains controversial. For other types of dwarfism, surgical treatment is not possible.