Primordial Dwarfism – Causes, Pictures, Treatment and Life Expectancy

Primordial Dwarfism Definition

It is a type of dwarfism that leads to a smaller body stature at all stages during the life of a person, beginning from birth. It is a rare and acute form of dwarfism.

Primordial Dwarfism History

This condition was first noted in 1815 in a baby girl born in Italy. This girl was Caroline Crachami, who is regarded as was the first recognized individual with PD. A little time before her death in 1824, she was measured by a journalist named William Jerdan. According to these measurements, she stood only 19 ½ inches tall.

Primordial Dwarfism Symptoms

The symptoms of this condition usually make themselves apparent while an infant is at the fetal stage. The belly of a pregnant woman does not grow as expected, even with progressing months. In such cases, ultrasound and other imaging tests show a small fetus. However, the proportion of growth is found to be normal.

In women carrying Primordial Dwarfism (PD) sufferers, labor pains begin early. Birth usually occurs prematurely, at approximately 35 weeks of gestation. After birth, an infant is found to have very low weight and height. However, every organ of such newborns is found to develop and separate in a proper manner. PD infants are found to weigh less than 3 pounds and having a height less than 16 inches.

With advancing age, further symptoms manifest in a suffering child. Bone problems become more rampant, particularly at the joint of the knees, hips and elbows. In some cases, there can be scoliosis of the spine (the spine can become more curved).

Individuals with PD can have a high-pitched voice that may sound squeaky. As a PD sufferer grows, his or her head may appear to shrink due to lower growth rate than other organs of the body. This may happen even if the infant is born with proportionate organs. This condition is referred to as “Microcephaly”.

What Causes Primordial Dwarfism?

Medical researchers are still in the dark regarding the exact causes of Primordial Dwarfism. The condition is not believed to arise due to any deficiency of nutrition or growth hormone.

The disorder is supposed to arise primarily due to genetic factors. It is thought to be an acquired hereditary condition that develops when an embryo receives a copy of defective gene from each parent. The condition may not be apparent in parents. However, they might have the defective gene in a recessive fashion. A primordial dwarf can be formed if these recessive genes combine with each other during reproduction. Though an extremely rare condition, some families have been found to have more than one child with this problem. Cases of sibling dwarfism are usually an indication of an Autosomal Recessive Inheritance. Presence of a genetic trait is clearly indicated for this disorder. It is, however, not clear why some people have these defective genes in the first place.

A report published in January 2008 mentioned mutations in the Pericentrin gene (PCNT) as the cause of Primordial Dwarfism. This gene has a role in Cytokinesis, proper chromosomal segregation and cell division.

Primordial Dwarfism Diagnosis

Primordial Dwarfism can be detected by X Ray imaging of the bone. Bone X rays show changes characteristic to the condition, such as widening of the long bone ends and thinning of bones.

Misdiagnosis is common for this condition due to the fact that it is extremely rare in nature. As PD infants do not have a similar growth rate as other children, digestive disorders, metabolic disorders or poor nutrition may be diagnosed initially. However, proper diagnosis may not be possible until some time has passed. It is only after diagnosis that severe dwarfism becomes apparent in a child. Diagnosis also involves taking into consideration other possible causes of the small stature of a child.

Primordial Dwarfism Treatment

Unfortunately, no curative method to reverse the changes caused by this condition has yet been discovered. This is primarily due to a lack of knowledge about the cause of the disease.

Since the condition is neither a result of hormonal nor nutritional deficiency, administering injections and supplements are not effective in curing the problem. Presently, the main approach used for PD cure involves treating the peripheral problems that occur due to the condition. These problems include

  • Difficulties in breastfeeding during infancy
  • Difficulties of the spine and the joints
  • Vision problems

PD is known to be caused due to inheritance of a mutated gene from each parent. A deficiency of growth hormone is not the cause of a lack of normal growth. Therefore, administrating growth hormone has trivial or no effect on the growth of an individual affected with this disorder.

Primordial Dwarfism Life Expectancy

The life expectancy for individuals with this condition is approximately 30 years. The low lifespan of such people is due to the fact that it is frequently accompanied by medical complications like vascular disorders.

People with Primordial Dwarfism

There have been quite a few individuals reported with this condition. Charlotte Garside, a young girl staying in a small seaside village close to Hull has been diagnosed with this disorder. Presently, she stands at 23 inches which is half of what her height should have been. In November 1999, another girl named Taylor Marcello was found to be suffering from the same disease. Recently, the disease has also been noticed in an American girl named Kenadie Jourdin-Bromley who weighs 17 pounds and stands 33 inches tall.

Every year, the condition (PD) is believed to affect only 100 people around the world.

Microcephalic Osteodysplastic Primordial Dwarfism

It is a rare type of dwarfism that results in extremely short physical stature of a child. An unborn infant grows very slowly in its mother’s womb, which continues all through its life. Most infants born with MOPD fail to reach the size of an average newborn till they are over two years old. Such children are found to suffer from several physical problems, such as respiratory difficulties, seizures and hip dislocation.

Primordial Dwarfism Pictures

Here are some pictures of Primordial Dwarfism that you will find useful for reference. Take a look at these Primordial Dwarfism images to know about the physical appearance of people suffering from this condition.

Primordial Dwarfism Picture

Picture 1 – Primordial Dwarfism

Pictures of Primordial Dwarfism

Picture 2 – Primordial Dwarfism Image

Individuals with Primordial Dwarfism find it difficult to be accepted in regular society. However, attitude about differently abled people is slowly changing. PD sufferers may have a short stature but not retarded intellect. With proper guidance and care, they can live a normal life like other people.


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