Primordial Dwarfism

What is Primordial Dwarfism?

Primordial dwarfism is a disorder that slows growth at early stages of life. Infants with this disorder are born smaller in stature. An infant born with a smaller size may have a condition known as intrauterine growth retardation (IUGR).

Intrauterine growth retardation (IUGR) is a disorder that delays the growth and development of the unborn baby in the womb.

Primordial Dwarfism picture 1


Primordial dwarfism consists of different conditions such as

Meier Gorlin syndrome

Meier-Gorlin syndrome is a disorder that slows growth before and after birth. Apart from the small stature, people with this condition have missing or weak kneecaps, ears that are small and the head is small.

Other features of this condition include:

  • Some people may have anomalies with their skeletons such as slow growth of bones, knees may bend backwards and bones in the legs and arms may appear long and narrow.
  • This condition also causes unusual development in sexual organs.
  • Some males have small testes or testes remain the abdomen, a condition known as cryptorchidism.
  • Some females may have small breasts and their external genital folds may appear small in size.

Meier-Gorlin syndrome is caused by defective genes from one or many of the following genes: ORC6, CDC6, CDT1, ORC1, and ORC4. These genes give instructions to manufacture a protein called pre-replication complex which controls DNA replication before cells separate.

Russell-Silver syndrome

Russell-Silver syndrome is a condition that delays growth at prenatal and after. Infants’ with this condition have low weight and fail to grow to the normal rate like other babies.

They have a big head which is larger than the rest of the body. They may have poor appetite and have repeated occurrences of low blood sugar, a condition known as hypoglycemia.

Infants with this disorder have faces that are triangular, small chin, big forehead, and problems with speech, reading and learning.

Russell-Silver syndrome is caused by mutated genes that control growth. These genes are found in certain areas of chromosome 11 and chromosome 7. Parents with defective genes pass a copy to the child.

Other conditions in the class of primordial dwarfism are

  • Microcephalic osteodysplastic primordial dwarfism
  • Seckel syndrome


Although the exact cause of primordial dwarfism is unknown, many medical researchers are associating this disorder with genetic factors. Researchers think that this condition starts when parents with mutated genes thought to cause this condition passes a copy of similar genes to the embryo.

The parents may not be having this disorder but instead have mutated genes that are recessive. During reproduction, recessive genes from both parents come together producing a primordial dwarf.


Symptoms of primordial dwarfism start when during fetal phase. Expectant women with this disorder experience labor pains earlier than expected. They can also give birth before the normal time of delivery, usually at about 35 weeks of conception.

When the baby is born, he or she has low weight and reduced height. As the age progresses, infants with this condition exhibit more symptoms. The infants may have problems with their bones especially at the joints of the elbow, knee and hips. Some infants may have a curved spine.

Others with this condition experience a change in their voice. They produce a loud voice that may sound squeaky. Also people with primordial dwarfism may have a shrinked head because the head grows slowly than other organs of the body.

Primordial Dwarfism picture 2

Physical characteristics

People with this disorder manifest certain physical characteristics such as

  • Have a very even small chest, spine and trunk.
  • Have uneven development of short forearm
  • Have a relatively sparse hair.
  • Hips are dislocated from their normal position
  • Their radial head is dislocated which leads to reduced movement at the elbows.
  • The color of their skin changes during childhood for example acanthosis nigricans. Acanthosis nigricans is a type of skin condition in which your body folds become dark. The skin is usually thick and acanthosis nigricans may affect your neck, armpits and groin. Acanthosis nigricans condition is more prevalent in people who are diabetic and obese6.

Primordial Dwarfism picture 3


Since this condition is rare, wrong diagnosis is common. This is because people with this disorder grow at different rates. They may also have metabolic and digestive diseases as well as poor balanced diet.

However, primordial dwarfism can be diagnosed through imaging tests such as X-rays. X-ray test provides clear pictures of your bone which can be evaluated to determine the cause of the condition.

Diagnosis of this disorder should also consider other similar conditions that delay growth. This is to ensure that the symptoms manifested by a person with this condition are not the same as other related disorders.


Currently, there is no cure that has been discovered to treat primordial dwarfism. This is attributed to limited knowledge of the real cause of this disorder.

At present, the main aim of treatment is to try and cure complications arising from this disorder. These complications include:

Problem with vision

There are many vision problems that affect people and treatment will depend on those problems. People with primordial dwarfism who have problems with their vision may receive the following eye treatments.

You may be given corrective lenses or contact glasses to correct refraction issues if you have a refractive error. In case dwarf people have the following eye problems: glaucoma and cataracts, surgery may be used to correct the problem.

As a dwarf person with vision problem, seek treatment from an ophthalmologist as well as go for frequent eye checkup to help prevent eye problems.

Joints and spine problems

There are many problems with joints and spine which can be treated or prevented. If dwarf people feel pain and stiffness in the joints and spine, there are pain medications that can help relieve pain and inflammation in the affected areas.

In case the problem is severe, imaging tests are done to understand the cause of the problem in your spine and joints. Surgery may be used to correct problems in your spine and joints. You may also need to change your lifestyle, for example exercise regularly to enhance your muscles and avoid smoking and alcohol.

Life Expectancy

A person with primordial dwarfism may live for nearly 30 years only. People with this condition have a low lifespan because of many severe medical complications they have to go through.

Reference List

  1. Primordial Dwarfism –
  2. Primordial Dwarfism –

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