Primordial Dwarfism

Did You Know?
Chandra Bahadur Dangi, from Nepal, a primordial dwarf, is currently the smallest man in the world. He stands 1 ft. 9½ inches tall, weighs a mere 14.5 pounds and is 72 years old!

Primordial dwarfism is a condition in which the body is properly and proportionately formed, but remains quite tiny. This form of dwarfism begins in the womb itself, and can be diagnosed during pregnancy when the fetus is observed to be abnormally small. These individuals are born underweight, shorter than normal, and often die within 24 hours.

Estimates of individuals with some form of dwarfism in the US ranges from 100,000 to 500,000, however, primordial dwarfism being such a rare condition, is known to afflict less than 100 people worldwide.

Russell-Silver Syndrome: Infants with this condition suffer from retarded growth, although their height is often more than those with other forms of primordial dwarfism. They also face body asymmetry, hypoglycemia, poor appetite and lack of vocal development. In certain cases Russell-Silver Syndrome may also be considered for treatment.

• Seckel Syndrome: It is a condition also known as bird-head dwarfism. Patients often have a narrow bird-like head and face with big eyes. They suffer from intellectual disabilities and various bone and joint dislocations.

Meier-Gorlin Syndrome: It's a rare condition, also known as Ear Patella Syndrome (EPS), patients are observed to have small ears and no kneecaps. They also suffer from joint dislocation and other bone disorders.

Majewski Osteodysplastic Primordial Dwarfism Type I (MOPD Type I): Patients suffer from sleep apnea and in severe cases may experience convulsions. Other symptoms are thin hair, poor development of fontanelle, and poor overall skeletal growth.

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II):It is the most severe form of primordial dwarfism, and patients suffer from a number of ailments such as, severe mental retardation, fatigue, lung problems and heart anomalies. They may develop brain aneurysms later in life, which shorten their lifespan.

These five sub-types are considered to be the severest of the 200 forms of dwarfism that are known. People with primordial dwarfism usually do not survive beyond thirty years of age, but can live happy lives with the support of their families and regular physiotherapy.

Causes
The exact causes of primordial dwarfism are not known. It is not due to any nutritional deficiency, neither due to any deficiency of growth hormones. However, there are clear indications that this kind of dwarfism is due to genetic factors. Primordial dwarfism occurs when an embryo receives one corresponding gene from each parent.

The parent themselves might not exhibit this condition, but they might carry a recessive gene. If, during conception, these recessive genes combine, they may result in a fetus afflicted with this condition.

One of the indicators is the fact that being a rare condition, there are families that have more than one child with it. Such sibling dwarfism indicates autosomal recessive inheritance. However, why some people have such genes in the first place is not yet known.

Symptoms 
The symptoms can be observed from the fetus stage itself. The following is a list of pregnancy and birth-related symptoms:

• The pregnant mother's stomach does not enlarge in accordance with a normal pregnancy cycle.
• A small fetus is reported during ultrasound and other pregnancy tests, but the proportion of growth is normal.

• Labor pains begin early and there is premature birth, at about 35 weeks of gestation.
• After birth, every organ of the newborn is developed and differentiated properly, yet the weight and height of the newborn is abnormally less. Typically, a height of less than 16 inches and a weight of less than 3 pounds is indicative of primordial dwarfism.

As the child grows, more symptoms appear:

• Bone problems are rampant, especially dislocations at the elbow joints, hips and knees.
• Scoliosis of the spine (a curved spine) may occur.

• Voice might be of a high pitch and sound squeaky.
• A condition known as microcephaly is often present, characterized by a smaller than average head.

Treatment 
Sadly, there is no method yet to reverse the condition of primordial dwarfism. Since this is neither a nutritional nor hormonal deficiency, administering supplements and injections do not work. A major reason for the lack of treatment, is the rarity of the disease and our limited understanding of it.

Main treatment approaches currently include treating the peripheral problems that occur due to this condition, such as difficulties in breastfeeding during infancy, dislocation or malformation of the joints and spinal column, and problems with vision.

Different regions of the world have different approaches towards primordial dwarfs, but they are generally warm and understanding. In the western world, like America and Europe, people with this condition have equal rights and are part of mainstream society.

However, some of them choose to distance themselves from society. There are also organizations like the Little People of America which provide all dwarfs, primordial dwarfs included, with an opportunity to meet each other. These are the times when people with similar conditions can intermingle and socialize.