Parastremmatic dwarfism

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at August 18, 2016
StartDiseasesParastremmatic dwarfism

Parastremmatic dwarfism is a type of dwarfism that affects a very small amount of the population, but it has profound effects on those who suffer from it. The condition does not have a cure, but with regular medical care people can expect to live a relatively normal life span. Although it causes severe physical symptoms, individuals with this condition do not experience intellectual disabilities. Parastremmatic dwarfism is also called parastremmatic dysplasia.

Contents

Definition & Facts

First reported by Leonard Langer in 1970, parastremmatic dwarfism is listed as a rare disease by multiple organizations worldwide. This typically means that it affects less than 200,000 people in the US population. Compared to other types of dwarfism, this condition is much rarer and people suffering from it have many more physical issues.

It is thought to be inherited from parents carrying genetic mutations, but because it is so rare, it remains to be seen how mutated genes specifically manifest in people with this disorder. The term 'parastremmatic' comes from the Greek word meaning 'twisted' for the characteristic twisting of the limbs and spine of those afflicted with the disorder.

Symptoms & Complaints

Individuals with this type of dwarfism often have problems with their joints, bones, and spine. Many patients will experience symptoms at birth or shortly after. Some of these symptoms can include scoliosis (severe curvature of the spine), limited joint mobility, and a severe rounding of the back and other bones.

Arms and legs tend to be bowed and deformed. Walking is delayed, incredibly difficult, or even impossible. The neck is short and not very mobile. Muscles and tendons tend to ossify which means that they turn hard and become difficult to use. Mobility becomes more difficult as this process causes an intense stiffness throughout the body.

As with other individuals of dwarfism, parastremmatic dwarfism causes short stature, usually around 90 to 110 cm (2.9-3.6 feet). The full scope of the symptoms are apparent by the time the individual reaches ten years old. Those with the condition normally have regular speech and their intelligence is not at all affected.

Causes

This particular type of dwarfism, like all types of dwarfism, is a genetic disorder in which the individual is afflicted with genetic mutations. This specific type of dwarfism results from mutations of the transient receptor potential vanilloid 4.

Parastremmatic dwarfism is thought to be inherited in the autosomal dominant manner. Autosomal dominant inheritance is when someone inherits a disorder from just one parent instead of needing a gene from each parent.

Because the condition is so rare, however, it is not certain how it transmits genetically. For example, a young girl born in 1965 with the disorder had no affected parents or siblings. Whether or not there is a definite connection with this type of dwarfism and a directly affected parent remains to be seen.

Diagnosis & Tests

Because parastremmatic dwarfism is so rare, it is possible that this disorder can be misdiagnosed. However, this particular disorder is hard to ignore because it is often crippling to those that suffer from it.

A conclusive way of determining whether someone suffers from this type of dwarfism, or any other genetic disorder, is through genetic testing. Genetic testing can reveal the exact genetic anomaly in order to provide a correct diagnosis through the analysis of genetic material from saliva or cheek swabs.

Dwarfism in general is congenital, meaning that it affects infants from birth. Infants with this particular type of dwarfism often appear stiff, and the skeletal deformities will become apparent within six to twelve months of life.

Parastremmatic dwarfism can also be diagnosed through X-rays and a physical examination. If this type of dwarfism is suspected before birth, tests and examinations can be done during pregnancy (prenatal diagnosis) in order to determine if the baby will suffer from the condition.

Treatment & Therapy

As with most genetic disorders, there is no cure for those suffering with parastremmatic dwarfism. Although there is no cure for this condition, there are a host of complex medical issues that must be managed throughout the individual's lifetime. People with types of dwarfism often have problems with excess fluid build up in the brain (hydrocephalus). Throughout their lifetime, they may need shunts inserted in order to prevent a fatal accumulation of fluid.

Other treatments can include breathing surgeries, corrective surgeries to correct physical deformities like bowed legs, and surgery to relieve pressure on the spinal column. People with all types of dwarfism usually have a plethora of surgeries to help correct physical problems.

Other, less invasive treatments can include physical therapy to increase joint range of motion, ear tubes to prevent hearing loss from repeated ear infections, jaw correction through orthodontic treatment, and nutritional guidance to help prevent obesity and to help keep skeletal integrity. Although there are no cures, there are a host of treatments available to improve the quality of life for people with parastremmatic dwarfism as well as other types of dwarfism.

Prevention & Prophylaxis

Preventing parastremmatic dwarfism is impossible because it is a genetic disorder. The only way to prevent a genetic disorder is for people who are planning on having children to be genetically tested in order to determine if they are carriers for genetic disorders. People who are carriers can only prevent having a child with a genetic disorder by either not having children, or monitoring the pregnancy for signs of the disorder.

If none of those options are viable, then potential parents can work closely with a specialist just in case their child is born with a disorder. It is always possible that a child is born without a disorder even if their parents are carriers. There have been some cases of parastremmatic dwarfism, however, in which neither parent has been afflicted with the condition.