Dwarfism
Dwarfism is characterized by shortness of the body, which is caused by genetic inheritance or disease Dwarfism is characterized by an adult height of 147 centimeters or less The average height in patients with dwarfism is 122 centimeters
Many different diseases can cause dwarfism Diseases are divided into two broad categories:
- Disproportionate dwarfism If the body size is disproportionate, then some parts of the body are small, while the rest may be of average or above average size. Diseases that cause disproportionate dwarfism stop bone development
- Proportional dwarfism A body is proportionally small if all parts of the body are equally small In this case, the proportion of the patient's body parts to each other is similar to the proportion between body parts in people of normal height Diseases that appear at birth or in early childhood limit the final growth and development
Conditions associated with dwarfism are mostly caused by genetic diseases, although the cause of some pathologies is unknown. Most cases of dwarfism are caused by various genetic mutations in either the father's sperm or the mother's egg.
Achondroplasia
80% of patients with achondroplasia have parents of normal height A person with achondroplasia, with parents of normal height, has inherited one mutated gene associated with the disease and one normal gene. A person with the disease may pass on a normal or mutated gene to their child
Turner syndrome
Turner syndrome, which occurs only in females, is caused by the complete or partial absence of the sex chromosome (X chromosome). A female fetus receives one X chromosome from each parent A girl with Turner syndrome has only one perfect X chromosome instead of two
Growth hormone deficiency
Growth hormone deficiency is sometimes associated with a genetic mutation or traumatic injury, although in most cases the cause of the disease is unknown.
Other causes
Other causes of dwarfism are genetic diseases, lack of other hormones or improper nutrition In some cases, the cause of the disease is unknown
In the spectrum of diseases, in addition to shortness of the body, there are various symptoms
Disproportionate dwarfism The majority of patients with dwarfism have a disease that causes a disproportionate shortness of the body Typically, a person at this time has an average-sized upper body and very short limbs, although some patients may have a very small body and short (but disproportionately large) limbs. In these diseases, the body is disproportionately large compared to the body
Most patients with disproportionate dwarfism have normal intellectual abilities. Rare exceptions are usually caused by a secondary factor, such as excess fluid around the brain (hydrocephalus).
The most common cause of dwarfism is achondroplasia, which causes the body to be disproportionately short. Manifestations of the disease:
- A medium-sized upper body
- Short arms and legs, especially the upper arms and upper legs
- Small fingers accompanied by a wide gap between the middle and ring finger
- Limited movement of the elbows
- Disproportionately large head with a prominent forehead and flattening of the middle part of the nose
- Gradual bending of the lower limbs
- Gradual thickening of the waist
- Adult height about 122 centimeters
Symptoms:
- Very small upper body
- Shortness of the neck
- Short arms and legs
- Normal-sized wrists and feet
- Broad, round-shaped chest
- Slightly flattened withers
The head, upper body and limbs are small in size, although they are in proportion to each other Since diseases affect the final growth, most of them lead to improper development of one or more systems of the body
Growth hormone deficiency is a frequent cause of proportional dwarfism The condition develops when the pituitary gland fails to release sufficient amounts of growth hormone, which is necessary for normal growth in a child Symptoms:
- Growth less than 1/3 percent of the child's standard growth
- Slow growth rate compared to age
- Delayed or absent sexual development during puberty
When to consult a doctor
